GlycogenGenes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Genetic Diseases, Inborn: Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.Glycogen Synthase: An enzyme that catalyzes the transfer of D-glucose from UDPglucose into 1,4-alpha-D-glucosyl chains. EC 22.214.171.124.Consanguinity: The magnitude of INBREEDING in humans.Liver Glycogen: Glycogen stored in the liver. (Dorland, 28th ed)Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Glycogen Synthase Kinase 3: A glycogen synthase kinase that was originally described as a key enzyme involved in glycogen metabolism. It regulates a diverse array of functions such as CELL DIVISION, microtubule function and APOPTOSIS.Glycogen Phosphorylase: An enzyme that catalyzes the degradation of GLYCOGEN in animals by releasing glucose-1-phosphate from the terminal alpha-1,4-glycosidic bond. This enzyme exists in two forms: an active phosphorylated form ( PHOSPHORYLASE A) and an inactive un-phosphorylated form (PHOSPHORYLASE B). Both a and b forms of phosphorylase exist as homodimers. In mammals, the major isozymes of glycogen phosphorylase are found in muscle, liver and brain tissue.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Homozygote: An individual in which both alleles at a given locus are identical.Polycystic Kidney, Autosomal Recessive: A genetic disorder with autosomal recessive inheritance, characterized by multiple CYSTS in both KIDNEYS and associated LIVER lesions. Serious manifestations are usually present at BIRTH with high PERINATAL MORTALITY.Syndrome: A characteristic symptom complex.Glycogen Synthase Kinases: A class of protein-serine-threonine kinases that was originally found as one of the three types of kinases that phosphorylate GLYCOGEN SYNTHASE. Glycogen synthase kinases along with CA(2+)-CALMODULIN DEPENDENT PROTEIN KINASES and CYCLIC AMP-DEPENDENT PROTEIN KINASES regulate glycogen synthase activity.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Phosphorylases: A class of glucosyltransferases that catalyzes the degradation of storage polysaccharides, such as glucose polymers, by phosphorolysis in animals (GLYCOGEN PHOSPHORYLASE) and in plants (STARCH PHOSPHORYLASE).Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Mutation, Missense: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)Retinitis Pigmentosa: Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Codon, Nonsense: An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Abnormalities, MultipleGlycogen Storage Disease: A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.Lod Score: The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Exons: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.Microcephaly: A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Ichthyosis: Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome.Genetic Testing: Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.Hypotrichosis: Presence of less than the normal amount of hair. (Dorland, 27th ed)Glycogen Debranching Enzyme System: 1,4-alpha-D-Glucan-1,4-alpha-D-glucan 4-alpha-D-glucosyltransferase/dextrin 6 alpha-D-glucanohydrolase. An enzyme system having both 4-alpha-glucanotransferase (EC 126.96.36.199) and amylo-1,6-glucosidase (EC 188.8.131.52) activities. As a transferase it transfers a segment of a 1,4-alpha-D-glucan to a new 4-position in an acceptor, which may be glucose or another 1,4-alpha-D-glucan. As a glucosidase it catalyzes the endohydrolysis of 1,6-alpha-D-glucoside linkages at points of branching in chains of 1,4-linked alpha-D-glucose residues. Amylo-1,6-glucosidase activity is deficient in glycogen storage disease type III.Glycogen Storage Disease Type I: An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.Intellectual Disability: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)Haplotypes: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Heterozygote Detection: Identification of genetic carriers for a given trait.Ichthyosiform Erythroderma, Congenital: Designation for several severe forms of ichthyosis, present at birth, that are characterized by hyperkeratotic scaling. Infants may be born encased in a collodion membrane which begins shedding within 24 hours. This is followed in about two weeks by persistent generalized scaling. The forms include bullous (HYPERKERATOSIS, EPIDERMOLYTIC), non-bullous (ICHTHYOSIS, LAMELLAR), wet type, and dry type.Muscular Dystrophies: A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.Glucose-6-Phosphate: An ester of glucose with phosphoric acid, made in the course of glucose metabolism by mammalian and other cells. It is a normal constituent of resting muscle and probably is in constant equilibrium with fructose-6-phosphate. (Stedman, 26th ed)Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Founder Effect: A phenomenon that is observed when a small subgroup of a larger POPULATION establishes itself as a separate and isolated entity. The subgroup's GENE POOL carries only a fraction of the genetic diversity of the parental population resulting in an increased frequency of certain diseases in the subgroup, especially those diseases known to be autosomal recessive.Glucose: A primary source of energy for living organisms. It is naturally occurring and is found in fruits and other parts of plants in its free state. It is used therapeutically in fluid and nutrient replacement.Frameshift Mutation: A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.Exome: That part of the genome that corresponds to the complete complement of EXONS of an organism or cell.Liver: A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.Rare Diseases: A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.Genetics, Medical: A subdiscipline of human genetics which entails the reliable prediction of certain human disorders as a function of the lineage and/or genetic makeup of an individual or of any two parents or potential parents.Chromosome Disorders: Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)Point Mutation: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.Eugenics: The attempt to improve the PHENOTYPES of future generations of the human population by fostering the reproduction of those with favorable phenotypes and GENOTYPES and hampering or preventing BREEDING by those with "undesirable" phenotypes and genotypes. The concept is largely discredited. (McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)Glycogen Storage Disease Type II: An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)PakistanMuscle, Skeletal: A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles.Genetic Counseling: An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered.Genetic Diseases, X-Linked: Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.Models, Genetic: Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.Ichthyosis, Lamellar: A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born encased in a collodion membrane which sheds within a few weeks. Scaling is generalized and marked with grayish-brown quadrilateral scales, adherent at their centers and free at the edges. In some cases, scales are so thick that they resemble armored plate.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Deafness: A general term for the complete loss of the ability to hear from both ears.Disease Models, Animal: Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.Fanconi Anemia: Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)Dwarfism: A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.Microsatellite Repeats: A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).Family Health: The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.Genetic Diseases, Y-Linked: Genetic diseases that are linked to mutant ALLELES on the Y CHROMOSOME in humans (Y CHROMOSOME, HUMAN) or the Y chromosome in other species. Included here are animal models of human Y-linked diseases.Prenatal Diagnosis: Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.Osteochondrodysplasias: Abnormal development of cartilage and bone.Hearing Loss, Sensorineural: Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.Muscular Atrophy, Spinal: A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)Cerebellar Ataxia: Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90)Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Genetic Heterogeneity: The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)DNA: A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).Survival of Motor Neuron 1 Protein: A SMN complex protein that is essential for the function of the SMN protein complex. In humans the protein is encoded by a single gene found near the inversion telomere of a large inverted region of CHROMOSOME 5. Mutations in the gene coding for survival of motor neuron 1 protein may result in SPINAL MUSCULAR ATROPHIES OF CHILDHOOD.Cystic Fibrosis: An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION.Genome, Human: The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.Polycystic Kidney Diseases: Hereditary diseases that are characterized by the progressive expansion of a large number of tightly packed CYSTS within the KIDNEYS. They include diseases with autosomal dominant and autosomal recessive inheritance.GlucosephosphatesMembrane Proteins: Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.Infant, Newborn: An infant during the first month after birth.Glycogen Storage Disease Type III: An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent.Age of Onset: The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.Osteopetrosis: Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGALY with infarct; ANEMIA; and extramedullary hemopoiesis (HEMATOPOIESIS, EXTRAMEDULLARY).Cystic Fibrosis Transmembrane Conductance Regulator: A chloride channel that regulates secretion in many exocrine tissues. Abnormalities in the CFTR gene have been shown to cause cystic fibrosis. (Hum Genet 1994;93(4):364-8)Muscles: Contractile tissue that produces movement in animals.Bone Diseases, DevelopmentalPhosphorylase b: The inactive form of GLYCOGEN PHOSPHORYLASE that is converted to the active form PHOSPHORYLASE A via phosphorylation by PHOSPHORYLASE KINASE and ATP.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Jews: An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM.Sequence Deletion: Deletion of sequences of nucleic acids from the genetic material of an individual.Phosphorylase a: The active form of GLYCOGEN PHOSPHORYLASE that is derived from the phosphorylation of PHOSPHORYLASE B. Phosphorylase a is deactivated via hydrolysis of phosphoserine by PHOSPHORYLASE PHOSPHATASE to form PHOSPHORYLASE B.Genetic Therapy: Techniques and strategies which include the use of coding sequences and other conventional or radical means to transform or modify cells for the purpose of treating or reversing disease conditions.Eye Diseases, Hereditary: Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder.Glycogen Phosphorylase, Liver Form: An isoenzyme of GLYCOGEN PHOSPHORYLASE that catalyzes the degradation of GLYCOGEN in liver tissue. Mutation of the gene coding this enzyme on chromosome 14 is the cause of GLYCOGEN STORAGE DISEASE TYPE VI.Polymorphism, Single-Stranded Conformational: Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.Glycogen Phosphorylase, Muscle Form: An isoenzyme of GLYCOGEN PHOSPHORYLASE that catalyzes the degradation of GLYCOGEN in muscle. Mutation of the gene coding this enzyme is the cause of McArdle disease (GLYCOGEN STORAGE DISEASE TYPE V).Uridine Diphosphate Glucose: A key intermediate in carbohydrate metabolism. Serves as a precursor of glycogen, can be metabolized into UDPgalactose and UDPglucuronic acid which can then be incorporated into polysaccharides as galactose and glucuronic acid. Also serves as a precursor of sucrose lipopolysaccharides, and glycosphingolipids.Glycogen Storage Disease Type IV: An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.Chromosomes, Human, Pair 2: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Albinism, Oculocutaneous: Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types.Nails, Malformed: Deformities in nail structure or appearance, including hypertrophy, splitting, clubbing, furrowing, etc. Genetic diseases such as PACHYONYCHIA CONGENITA can result in malformed nails.Arabs: Members of a Semitic people inhabiting the Arabian peninsula or other countries of the Middle East and North Africa. The term may be used with reference to ancient, medieval, or modern ethnic or cultural groups. (From Random House Unabridged Dictionary, 2d ed)Cell Line: Established cell cultures that have the potential to propagate indefinitely.Gene Frequency: The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.Proteins: Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.Ataxia Telangiectasia: An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).DNA Primers: Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.Charcot-Marie-Tooth Disease: A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)Family: A social group consisting of parents or parent substitutes and children.Mice, Mutant Strains: Mice bearing mutant genes which are phenotypically expressed in the animals.Cells, Cultured: Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.Chromosomes, Human, Pair 1: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Lafora Disease: A form of stimulus sensitive myoclonic epilepsy inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110)Insulin: A 51-amino acid pancreatic hormone that plays a major role in the regulation of glucose metabolism, directly by suppressing endogenous glucose production (GLYCOGENOLYSIS; GLUCONEOGENESIS) and indirectly by suppressing GLUCAGON secretion and LIPOLYSIS. Native insulin is a globular protein comprised of a zinc-coordinated hexamer. Each insulin monomer containing two chains, A (21 residues) and B (30 residues), linked by two disulfide bonds. Insulin is used as a drug to control insulin-dependent diabetes mellitus (DIABETES MELLITUS, TYPE 1).Sarcoglycans: A family of transmembrane dystrophin-associated proteins that play a role in the membrane association of the DYSTROPHIN-ASSOCIATED PROTEIN COMPLEX.RNA Splice Sites: Nucleotide sequences located at the ends of EXONS and recognized in pre-messenger RNA by SPLICEOSOMES. They are joined during the RNA SPLICING reaction, forming the junctions between exons.Gene Deletion: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.Introns: Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.Polymorphism, Genetic: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.Eye ProteinsChromosomes, Human, Pair 16: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Friedreich Ataxia: An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)Ectodermal Dysplasia: A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.Inheritance Patterns: The different ways GENES and their ALLELES interact during the transmission of genetic traits that effect the outcome of GENE EXPRESSION.Phosphorylation: The introduction of a phosphoryl group into a compound through the formation of an ester bond between the compound and a phosphorus moiety.Cutis Laxa: A group of connective tissue diseases in which skin hangs in loose pendulous folds. It is believed to be associated with decreased elastic tissue formation as well as an abnormality in elastin formation. Cutis laxa is usually a genetic disease, but acquired cases have been reported. (From Dorland, 27th ed)Dysostoses: Defective bone formation involving individual bones, singly or in combination.Electroretinography: Recording of electric potentials in the retina after stimulation by light.Disease: A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown.Cystinosis: A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.Hearing Loss: A general term for the complete or partial loss of the ability to hear from one or both ears.Retinal Degeneration: A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304)Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.1,4-alpha-Glucan Branching Enzyme: In glycogen or amylopectin synthesis, the enzyme that catalyzes the transfer of a segment of a 1,4-alpha-glucan chain to a primary hydroxy group in a similar glucan chain. EC 184.108.40.206.Amino Acid Metabolism, Inborn Errors: Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.Microphthalmos: Congenital or developmental anomaly in which the eyeballs are abnormally small.Penetrance: The percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From Glossary of Genetics, 5th ed)X Chromosome: The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.Optic Atrophy: Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition.Fibroblasts: Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.RNA, Messenger: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.Signal Transduction: The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.Mice, Knockout: Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.Foot Deformities, Congenital: Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth.Hemochromatosis: A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)Hair Diseases: Diseases affecting the orderly growth and persistence of hair.Eye Abnormalities: Congenital absence of or defects in structures of the eye; may also be hereditary.Kidney Diseases, Cystic: A heterogeneous group of hereditary and acquired disorders in which the KIDNEY contains one or more CYSTS unilaterally or bilaterally (KIDNEY, CYSTIC).Lactic Acid: A normal intermediate in the fermentation (oxidation, metabolism) of sugar. The concentrated form is used internally to prevent gastrointestinal fermentation. (From Stedman, 26th ed)Syndactyly: A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements.Amino Acid Substitution: The naturally occurring or experimentally induced replacement of one or more AMINO ACIDS in a protein with another. If a functionally equivalent amino acid is substituted, the protein may retain wild-type activity. Substitution may also diminish, enhance, or eliminate protein function. Experimentally induced substitution is often used to study enzyme activities and binding site properties.Codon, Terminator: Any codon that signals the termination of genetic translation (TRANSLATION, GENETIC). PEPTIDE TERMINATION FACTORS bind to the stop codon and trigger the hydrolysis of the aminoacyl bond connecting the completed polypeptide to the tRNA. Terminator codons do not specify amino acids.Genetic Variation: Genotypic differences observed among individuals in a population.Spastic Paraplegia, Hereditary: A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)Pregnancy: The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.Muscle Hypotonia: A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.Judaism: The religion of the Jews characterized by belief in one God and in the mission of the Jews to teach the Fatherhood of God as revealed in the Hebrew Scriptures. (Webster, 3d ed)Spinal Muscular Atrophies of Childhood: A group of recessively inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3)Hand Deformities, Congenital: Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.alpha-Glucosidases: Enzymes that catalyze the exohydrolysis of 1,4-alpha-glucosidic linkages with release of alpha-glucose. Deficiency of alpha-1,4-glucosidase may cause GLYCOGEN STORAGE DISEASE TYPE II.Carrier Proteins: Transport proteins that carry specific substances in the blood or across cell membranes.Models, Biological: Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.Crosses, Genetic: Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.Sequence Alignment: The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.Protein Structure, Tertiary: The level of protein structure in which combinations of secondary protein structures (alpha helices, beta sheets, loop regions, and motifs) pack together to form folded shapes called domains. Disulfide bridges between cysteines in two different parts of the polypeptide chain along with other interactions between the chains play a role in the formation and stabilization of tertiary structure. Small proteins usually consist of only one domain but larger proteins may contain a number of domains connected by segments of polypeptide chain which lack regular secondary structure.Lactates: Salts or esters of LACTIC ACID containing the general formula CH3CHOHCOOR.Protein Tyrosine Phosphatases, Non-Receptor: A subcategory of protein tyrosine phosphatases that occur in the CYTOPLASM. Many of the proteins in this category play a role in intracellular signal transduction.Granulomatous Disease, Chronic: A defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. When chronic granulomatous disease is caused by mutations in the CYBB gene, the condition is inherited in an X-linked recessive pattern. When chronic granulomatous disease is caused by CYBA, NCF1, NCF2, or NCF4 gene mutations, the condition is inherited in an autosomal recessive pattern.Molecular Biology: A discipline concerned with studying biological phenomena in terms of the chemical and physical interactions of molecules.Tunisia: A country in northern Africa between ALGERIA and LIBYA. Its capital is Tunis.Mice, Inbred C57BLGenetic Vectors: DNA molecules capable of autonomous replication within a host cell and into which other DNA sequences can be inserted and thus amplified. Many are derived from PLASMIDS; BACTERIOPHAGES; or VIRUSES. They are used for transporting foreign genes into recipient cells. Genetic vectors possess a functional replicator site and contain GENETIC MARKERS to facilitate their selective recognition.Acidosis, Renal Tubular: A group of genetic disorders of the KIDNEY TUBULES characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic ACIDOSIS. Defective renal acidification of URINE (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as HYPOKALEMIA, hypercalcinuria with NEPHROLITHIASIS and NEPHROCALCINOSIS, and RICKETS.Sequence Homology, Amino Acid: The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.Arthrogryposis: Persistent flexure or contracture of a joint.Fanconi Anemia Complementation Group Proteins: A diverse group of proteins whose genetic MUTATIONS have been associated with the chromosomal instability syndrome FANCONI ANEMIA. Many of these proteins play important roles in protecting CELLS against OXIDATIVE STRESS.Chromosomes, Human, Pair 19: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.Glucose-6-Phosphatase: An enzyme that catalyzes the conversion of D-glucose 6-phosphate and water to D-glucose and orthophosphate. EC 220.127.116.11.Facies: The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)Kinetics: The rate dynamics in chemical or physical systems.Craniofacial Abnormalities: Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.Genes, Lethal: Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.Gene Expression: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.Keratoderma, Palmoplantar: Group of mostly hereditary disorders characterized by thickening of the palms and soles as a result of excessive keratin formation leading to hypertrophy of the stratum corneum (hyperkeratosis).Lithium Chloride: A salt of lithium that has been used experimentally as an immunomodulator.LebanonSMN Complex Proteins: A complex of proteins that assemble the SNRNP CORE PROTEINS into a core structure that surrounds a highly conserved RNA sequence found in SMALL NUCLEAR RNA. They are found localized in the GEMINI OF COILED BODIES and in the CYTOPLASM. The SMN complex is named after the Survival of Motor Neuron Complex Protein 1, which is a critical component of the complex.Kartagener Syndrome: An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts.Cloning, Molecular: The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.Dystrophin: A muscle protein localized in surface membranes which is the product of the Duchenne/Becker muscular dystrophy gene. Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while those with Becker muscular dystrophy have dystrophin of an altered size. It shares features with other cytoskeletal proteins such as SPECTRIN and alpha-actinin but the precise function of dystrophin is not clear. One possible role might be to preserve the integrity and alignment of the plasma membrane to the myofibrils during muscle contraction and relaxation. MW 400 kDa.Glucosyltransferases: Enzymes that catalyze the transfer of glucose from a nucleoside diphosphate glucose to an acceptor molecule which is frequently another carbohydrate. EC 2.4.1.-.Tooth Abnormalities: Congenital absence of or defects in structures of the teeth.Dogs: The domestic dog, Canis familiaris, comprising about 400 breeds, of the carnivore family CANIDAE. They are worldwide in distribution and live in association with people. (Walker's Mammals of the World, 5th ed, p1065)
Because the disease is autosomal recessive, affected foals must be homozygous for the lethal GBED allele, meaning both parents ... Glycogen storage disease type IV "Testing for Genetic Diseases" Equus 353, pp 40-41. Valberg, SJ; Ward, TL; Rush, B; Kinde, H; ... GBED is caused by an autosomal recessive mutation to the GBE1 gene, which leads glycogen branching enzyme activity that is ... Glycogen-branching enzyme deficiency (GBED) is an inheritable glycogen storage disease affecting American Quarter Horses and ...
... is an autosomal recessive disorder, caused by loss of function mutations in either laforin glycogen phosphatase ... Lafora disease, also called Lafora progressive myoclonic epilepsy or MELF, is a fatal autosomal recessive genetic disorder ... "Lafora disease , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih.gov. Retrieved ... Lafora bodies are aggregates of polyglucosans or abnormally shaped glycogen molecules. Glycogen in Lafora disease patients has ...
... disease), a rare autosomal recessive genetic disorder with symptoms ranging from mild to moderate; is not thought life- ... Glycogen storage disease type X). Onset is generally noted as childhood to early adult though some who may be ... Deficiency of phosphoglycerate mutase causes glycogen storage disease type VI (GSD VI, Hers' ... The disease is not progressive and has an excellent prognosis. BPGM; PFKFB1; PFKFB2; PFKFB3; PFKFB4; PGAM1; ...
It is inherited in an X-linked or autosomal recessive manner. The signs and symptoms in glycogen storage disease type IX ... Genetic testing Physical exam There are two types of this inherited condition, glycogen storage disease IXa1 and glycogen ... Glycogen storage disease "Glycogen storage disease type IX". Genetics Home Reference. Retrieved 2016-08-06. Goldstein, Jennifer ... Glycogen storage disease type IX can be inherited via: X-linked recessive inheritance due to mutations at either PHKA1 or the ...
... leading to liver disease. Hemochromatosis and Wilson's disease are both autosomal recessive diseases involving abnormal storage ... The disease is thought to have a genetic predisposition as it is associated with certain human leukocyte antigens involved in ... Metabolic diseases such as glycogen storage disorders and lysosomal storage disorders are also implicated. Neonatal hepatitis ... However, all of these diseases can lead to scarring, fibrosis, and cirrhosis of the liver. Genetic causes of hepatitis include ...
... is an autosomal recessive metabolic disorder and inborn error of metabolism (specifically of ... "glycogen storage disease type III". Genetics Home Reference. Retrieved 2016-08-07. "Glycogen storage disease type 3 , Genetic ... In regards to genetics glycogen storage disease type III is inherited in an autosomal recessive pattern (which means both ... "Glycogen storage disease type III: modified Atkins diet improves myopathy". Orphanet Journal of Rare Diseases. 9: 196. doi: ...
APBD is an autosomal recessive disorder that is caused when a person inherits genes from both parents containing one or more ... Adult polyglucosan body disease (APBD) is an orphan disease and a glycogen storage disorder that is caused by an inborn error ... APBD can only be prevented if parents undergo genetic screening to understand their risk of producing a child with the ... Adult polyglucosan body disease is an orphan disease and a glycogen storage disorder that is caused by an inborn error of ...
Molecular and Cellular Biology portal Hexokinase deficiency is a genetic autosomal recessive disease that causes Chronic ... In hepatocytes of the liver, glucokinase responds to changes of ambient glucose levels by increasing or reducing glycogen ... Allostery Enzyme catalysis Flexible linker Fluorescent glucose biosensors Glucokinase Glycolysis Glycogen Glucose 6-phosphatase ... such as glycolysis or glycogen synthesis. This is because phosphorylated hexoses are charged, and thus more difficult to ...
There are two autosomal recessive forms of this disease, childhood-onset and adult-onset. The gene for myophosphorylase, PYGM ( ... Genetic sequencing of the PYGM gene (which codes for the muscle isoform of glycogen phosphorylase) may be done to determine the ... Glycogen storage disease type V (GSD-V) is a metabolic disorder, more specifically a glycogen storage disease, caused by a ... The Association for Glycogen Storage Disease The Association for Glycogen Storage Disease (UK) McArdle information McArdle ...
1997). "Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit ... GeneReviews/NCBI/NIH/UW entry on Phosphorylase Kinase Deficiency, Glycogen Storage Disease Type IX Molecular and Cellular ... "Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease". J. Mol. Biol. 277 ... 1997). "Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the ...
... there is an increased rate of a number of genetic disorders such as Tay-Sachs disease, an autosomal recessive disorder that ... Tay-Sachs disease Familial dysautonomia Cystic fibrosis Canavan disease Glycogen storage disease (type 1) Fanconi anemia (type ... also called Committee for Prevention of Jewish Genetic Diseases, is an organization that offers genetic screening to members of ... Critics including the Association for the Prevention of Jewish Genetic Diseases, have described Dor Yeshorim in the UK as a " ...
GSD Ia is inherited as an autosomal recessive disease. Heterozygote carriers are asymptomatic. As for other autosomal recessive ... or von Gierke disease, is the most common of the glycogen storage diseases. This genetic disease results from deficiency of the ... Glycogen-Storage Disease Type I at eMedicine The Association for Glycogen Storage Disease: Type I Glycogen Storage Disease Type ... 1993). "Glycogen Storage Disease Type I". PMID 20301489. Online Mendelian Inheritance in Man (OMIM) Glycogen Storage Disease Ib ...
It is a rare, hereditary recessive autosomal disease, in general, diagnosed during childhood. A total of 131 different ... Genetic defects that affect the MTHFR, MTR, and MTRR/MS enzyme pathways can also contribute to high homocysteine levels. Inborn ... In addition it is upregulated transcriptionally by glucocorticoids and glycogen, and downregulated by insulin. Methionine ... Mutations in this domain are correlated with hereditary diseases. The heme domain contains an N-terminal loop that binds heme ...
Muscle β-enolase deficiency (Glycogen storage disease type X) is a rare inherited metabolic myopathy caused by a defect in the ... Though this deficiency is characterized as an autosomal recessive condition, both heterozygous and homozygous mutations were ... Advances in genetic testing, such as exome sequencing and specific gene panels, can provide greater access to diagnoses for ... Mutations in this gene have been associated with glycogen storage disease. Alternatively spliced transcript variants encoding ...
Genetic defects of this enzyme cause the disease known as pyruvate kinase deficiency. In this condition, a lack of pyruvate ... Pyruvate kinase deficiency is caused by an autosomal recessive trait. Mammals have two pyruvate kinase genes, PK-LR (which ... doi:10.1016/S0969-2126(98)00021-5. Birnbaum, M. J.; Fain, J. N. (1977-01-25). "Activation of protein kinase and glycogen ... A study of PKM2 in babies with the genetic brain disease phenylketonurics (PKU), showed elevated levels of phenylalanine and ...
... sexual predilection is observed because the deficiency of glycogen synthetase activity is inherited as an autosomal recessive ... Glycogen-storage disease type 0 is caused by genetic defects in the gene that codes for liver glycogen synthetase (GYS2), which ... "Glycogen-Storage Disease Type 0" "Orphanet: Glycogen storage disease due to hepatic glycogen synthase deficiency". www.orpha. ... e condition glycogen storage disease type 0 to be considered, they are: Glycogen storage disease due to liver glycogen synthase ...
Autosomal recessive. Main article: Autosomal dominant § Autosomal recessive allele. Two copies of the gene must be ... Glycogen storage diseases. 1 in 50,000 Galactosemia. 1 in 57,000 X-linked ... Autosomal dominant. Main article: Autosomal dominant § Autosomal dominant gene. Only one mutated copy of the gene will be ... Genetic and Rare Diseases Information Center (GARD) Office of Rare Diseases (ORD), National Institutes of Health (NIH) ...
MCADD is inherited in an autosomal recessive manner, meaning an affected individual must inherit a mutated allele from both of ... MCADD can also present with acute liver disease and hepatomegaly, which can lead to a misdiagnosis of Reye syndrome. In some ... Fatty acid beta-oxidation provides energy after the body has used up its stores of glucose and glycogen. This oxidation ... After biochemical suspicion of MCADD, molecular genetic analysis of ACADM can be used to confirm the diagnosis. The analysis of ...
Diseases inherited in an autosomal recessive pattern often occur in endogamous populations. Among Ashkenazi Jews, a higher ... Victor Center for Jewish Genetic Diseases Ashkenazi Jewish Diseases - Tufts Medical Center Jewish Genetic Disease Consortium ... Glycogen Storage Disease Type Ia Mutation Analysis (Ashkenazi Jewish)" Ahn, J. K.; Lev, D.; Leshinsky-Silver, E.; Ginzberg, M ... "Large multicenter study suggests new genetic markers for Crohn's disease: Results shed light on special genetic vulnerabilities ...
... autosomal (CYBA) Chronic granulomatous disease: autosomal (NCF1) Chronic granulomatous disease: autosomal (NCF2) IL-12 and IL- ... They may result from a single genetic defect, but most are multifactorial. They may be caused by recessive or dominant ... Kostmann syndrome Neutropenia with cardiac and urogenital malformations Glycogen storage disease type 1b Cyclic neutropenia X- ... caused by other disease, drug treatment, or environmental exposure to toxins). Most primary immunodeficiencies are genetic ...
Kostmann disease, SCN3, is inherited in an autosomal recessive manner, but the commonest subtype of Kostmann syndrome, SCN1, is ... and glycogen storage disease type Ib. A further group of other miscellaneous inherited disorders, such as hyper IgM syndrome, ... There may be, in addition, other underlying molecular/genetic changes producing DNA mutations and genome instability, which ... SCN3 is the "classical", autosomal recessive form of Kostmann disease which arises from homozygous mutations in the HAX1 gene ...
... is an autosomal recessive motor neuron disease caused by mutations in the SMN1 gene (Brzustowicz et al., 1990). Symptoms vary ... Effective treatment of these diseases is often prevented by lack of understanding of the underlying molecular and genetic ... "Temporal correlation of the memory deficit with Alzheimer-like lesions induced by activation of glycogen synthase kinase-3." J ... Disease: amyotrophic lateral sclerosis (ALS), Alzheimer's disease (AD), Huntington's disease (HD), spinal muscular atrophy (SMA ...
"Tarui disease". The Swedish Information Center for Rare Diseases. University of Gothenburg. "Glycogen Storage Disease Type VII ... with an autosomal recessive inheritance pattern. It may affect humans as well as other mammals (especially dogs). It was named ... In order to get Tarui's disease, both parents must be carriers of the genetic defect so that the child is born with the full ... Glycogen storage disease type 7; Muscle phosphofructokinase deficiency; Tarui disease at NIH's Office of Rare Diseases ...
Defects in this gene are the cause of glycogen storage disease II, also known as Pompe disease, which is an autosomal recessive ... Genetic Analysis, Techniques and Applications. 7 (6): 160-71. doi:10.1016/0735-0651(90)90030-J. PMID 2076345.. ... "Entrez Gene: GAA glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)".. ... GeneReview/NIH/UW entry on Glycogen Storage Disease Type II (Pompe Disease) ...
ApoE4 is the primary genetic risk factor for late-onset Alzheimer's disease. This strong genetic association has led to the ... Hong SE, Shugart YY, Huang DT, Shahwan SA, Grant PE, Hourihane JO, Martin ND, Walsh CA (Sep 2000). "Autosomal recessive ... "Reelin-mediated signaling locally regulates protein kinase B/Akt and glycogen synthase kinase 3beta". The Journal of Biological ... A large genetic study of 2008 showed that RELN gene variation is associated with an increased risk of Alzheimer's disease in ...
... (UDP-glucose-glycogen glucosyltransferase) is a key enzyme in glycogenesis, the conversion of glucose into glycogen. It is a glycosyltransferase (EC 18.104.22.168) that catalyses the reaction of UDP-glucose and (1,4-α-D-glucosyl)n to yield UDP and (1,4-α-D-glucosyl)n+1. In other words, this enzyme combines excess glucose residues one by one into a polymeric chain for storage as glycogen. Glycogen synthase concentration is highest in the bloodstream 30 to 60 minutes following intense exercise. Much research has been done on glycogen degradation through studying the structure and function of glycogen phosphorylase, the key regulatory enzyme of glycogen degradation. On the other hand, much less is known about the structure of glycogen synthase, the key regulatory enzyme of glycogen synthesis. The crystal structure of glycogen ...
A debranching enzyme is a molecule that helps facilitate the breakdown of glycogen, which serves as a store of glucose in the body, through glucosyltransferase and glucosidase activity. Together with phosphorylases, debranching enzymes mobilize glucose reserves from glycogen deposits in the muscles and liver. This constitutes a major source of energy reserves in most organisms. Glycogen breakdown is highly regulated in the body, especially in the liver, by various hormones including insulin and glucagon, to maintain a homeostatic balance of blood-glucose levels. When glycogen breakdown is compromised by mutations in the glycogen debranching enzyme, metabolic diseases such as Glycogen storage disease type III can result. Glucosyltransferase and glucosidase are performed by a single enzyme in mammals, yeast, and some bacteria, but by two distinct enzymes in E. coli and other bacteria, ...
... , also called Pompe disease, is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme. It is the only glycogen storage disease with a defect in lysosomal metabolism, and the first glycogen storage disease to be identified, in 1932 by the Dutch pathologist J. C. Pompe. The build-up of glycogen causes progressive muscle weakness (myopathy) throughout the body and affects various body tissues, particularly in the heart, skeletal muscles, liver and the nervous system. The infantile form usually comes to medical attention within the first few months of life. The usual presenting features are cardiomegaly (92%), hypotonia (88%), cardiomyopathy (88%), respiratory distress (78%), muscle weakness (63%), feeding difficulties (57%) and failure to ...
A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by enzyme deficiencies affecting either glycogen synthesis, glycogen breakdown or glycolysis (glucose breakdown), typically within muscles and/or liver cells. GSD has two classes of cause: genetic and acquired. Genetic GSD is caused by any inborn error of metabolism (genetically defective enzymes) involved in these processes. In livestock, acquired GSD is caused by intoxication with the alkaloid castanospermine. Remarks: Some GSDs have different forms, e.g. infantile, juvenile, adult (late-onset). Some GSDs have different subtypes, e.g. GSD1a / GSD1b, GSD9A1 / GSD9A2 / GSD9B / GSD9C / GSD9D. GSD type 0: Although glycogen synthase deficiency does not result in storage of extra glycogen in the ...
... is regulated by both allosteric control and by phosphorylation.. Hormones such as epinephrine, insulin and glucagon regulate glycogen phosphorylase using second messenger amplification systems that are linked to G proteins. Glucagon activates adenylate cyclase through a seven transmembrane receptor coupled to Gs which, in turn, activates adenylate cyclase to increase intracellular concentrations of cAMP. cAMP binds to and releases an active form of protein kinase A (PKA). Next, PKA phosphorylates phosphorylase kinase, which, in turn, phosphorylates glycogen phosphorylase b, transforming it into the active glycogen phosphorylase a. This phosphorylation is added onto the glycogen phosphorylase b serine 14. In the liver, glucagon activates another G-protein-linked receptor that triggers a different cascade, resulting in the activation of Phospholipase C (PLC). PLC indirectly causes the release of calcium from the hepatocytes' endoplasmic ...
... (GSD I) or von Gierke disease, is the most common of the glycogen storage diseases. This genetic disease results from deficiency of the enzyme glucose-6-phosphatase, and has an incidence in the American population of approximately 1 in 50,000 to 100,000 births. The deficiency impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis. Since these are the two principal metabolic mechanisms by which the liver supplies glucose to the rest of the body during periods of fasting, it causes severe hypoglycemia and results in increased glycogen storage in liver and kidneys. Both organs function normally in childhood, but are susceptible to a variety of problems in adult years. Other metabolic derangements include lactic acidosis and hyperlipidemia. Frequent or continuous feedings of cornstarch or other carbohydrates are the principal treatment. Other therapeutic measures may ...
... (abbreviation: GPBB) is an isoenzyme of glycogen phosphorylase. This isoform of the enzyme exists in cardiac (heart) and brain tissue. The enzyme is one of the "new cardiac markers" which are discussed to improve early diagnosis in acute coronary syndrome. A rapid rise in blood levels can be seen in myocardial infarction and unstable angina. Other enzymes related to glycogen phosphorylase are abbreviated as GPLL (liver) and GPMM (muscle). Apple FS, Wu AH, Mair J, et al. (May 2005). "Future biomarkers for detection of ischemia and risk stratification in acute coronary syndrome". Clin. Chem. 51 (5): 810-24. doi:10.1373/clinchem.2004.046292. PMID 15774573. Peetz D, Post F, Schinzel H, et al. (2005). "Glycogen phosphorylase BB in acute coronary syndromes". Clin. Chem. Lab. Med. 43 (12): 1351-8. doi:10.1515/CCLM.2005.231. PMID 16309372 ...
... is an enzyme that is involved in the biosynthesis of glycogen. This enzyme is important for the function of self-glucosylated to form an oligosaccharide primer that serves as substrate for glycogen synthase. This is done through an inter-subunit mechanism. It also plays a role in glycogen metabolism regulation and in the maximal glycogen levels attaintment in skeletal muscle. Recombinant human glycogenin-1 was expressed in E. coli and purified by using conventional chromatography techniques. Glycogen is a multi branched polysaccharide. It is the way all the animal cells have to store glucose. In the human body, the two main tissues of glycogen accumulation are liver and skeletal muscle. The concentration of this polysaccharide is superior at the liver, but, due to the major mass of skeletal that muscle humans have, this tissue contains three quarters of the corporal ...
... (GBED) is an inheritable glycogen storage disease affecting American Quarter Horses and American Paint Horses. It leads to abortion, stillbirths, or early death of affected animals. Glycogen is a molecular polymer of glucose used to store energy. It is important for providing energy for skeletal and cardiac muscle contraction, and for maintaining glucose hemostasis in the blood. Molecules of glucose are linked into linear chains by α-1,4-glycosidic bonds. Additionally, branches of glucose are formed off of the chain via α-1,6-glycosidic bonds. 2 molecules of glucose are joined into an α-1,4-glycosidic bonds by an enzyme known as glycogen synthase. This bond may be broken by amylase when the body wishes to break down glycogen into glucose for energy. Glycogen branching enzyme is responsible for the required α-1,6-glycosidic bonds needed to start a branch off of these linear chains. These branches are important, as they ...
In sports science theory, supercompensation is the post training period during which the trained function/parameter has a higher performance capacity than it did prior to the training period. The fitness level of a human body in training can be broken down into four periods: initial fitness, parietal fitness training, recovery, and supercompensation. During the initial fitness period, the target of the training has a base level of fitness (shown by the first time sector in the graph). Upon entering the training period, the target's level of fitness decreases (shown by the second time sector in the graph). After training, the body enters the recovery period during which level of fitness increases up to the initial fitness level (shown by the third time sector in the graph). Because the human body is an adjustable organism, it will feel the need to adjust itself to a higher level of fitness in anticipation of the next training session. Accordingly, the increase in fitness following a training ...
Carbon storage regulator A (CsrA) is an RNA binding protein. The CsrA homologs are found in most bacterial species, in the pseudomonads they are called repressor of secondary metabolites (RsmA and RsmE). The CsrA proteins generally bind to the Shine-Dalgarno sequence of messenger RNAs and either inhibit translation or facilitate mRNA decay. CsrA has a regulatory effect on glycogen biosynthesis and catabolism, glycolysis, biofilm formation and quorum sensing. The CsrA protein binds to a Stem-loop RNA motif. The ability of the protein to inhibit translation of bound mRNAs can be countered by the expression of sRNAs such as CsrB, CsrC, RsmZ, RsmY and RsmX that contain multiple copies of the RNA motif. These RNAs sequester CsrA, which allows the translation of the previously inhibited bound mRNAs. A study investigating specific binding of CsrA in the Salmonella transcriptome has identified 467 binding sites. Gutiérrez, P; Li, Y; Osborne, MJ; Pomerantseva, E; Liu, Q; Gehring, K (May 2005). ...
Schematic twa-dimensional cross-sectional view o glycogen: A core protein o glycogenin is surroondit bi branches o glucose units. The entire globular granule mey conteen aroond 30,000 glucose units. ...
A darkcutter or dark cutter is a carcass of beef that has been subjected to undue stress before slaughter, and is dark in color. Sometimes referred to as dark cutting beef, they have a dark color which makes the meat appear less fresh, making them undesirable to consumers. Darkcutters fetch a lower price than otherwise ordinary beef on the market. A darkcutter's eating quality is actually better because of the ability of the proteins to remain juicy. Stress ante mortem causes a depletion of glycogen stores in the liver and muscles, so the glucose normally used post mortem to produce ATP anaerobically, resulting in lactic acid production before the development of rigor mortis, is not available. The muscle pH stays high (above 6.0), resulting in higher water-holding capacity (sticky protein) and more translucent muscle, which looks darker because light travels deeper into the muscle before being refracted. PSE meat McKinnon, Bill R. (March 1998). "Beef Quality Corner - "Dark ...
Pompe disease is a rare disorder caused by the deficiency of the acid alpha-glucosidase enzyme. ... I should write more often about genetic conditions. But I dont want to duplicate the articles of Wikipedia, my aim is to ... Its inherited in an autosomal recessive manner. The patients cant break down glycogen. According to the Wiki article:. It is ... Glycogen Storage Disease Type IIIa: Shared Genetic Mutation For Disease In Inuit ...
... resources and questions answered by our Genetic and Rare Diseases Information Specialists for Glycogen storage disease type 6 ... The disease is inherited. in an autosomal recessive. manner. The diagnosis is made based on genetic testing. of the PYGL ... Glycogen storage disease type 6 Title Other Names:. GSD6; Glycogen storage disease 6; Hers disease; GSD6; Glycogen storage ... Glycogen storage disease type 6 (GSD6) is a genetic disease in which the liver cannot process sugar properly. The liver is ...
The Quarter horse, along with other breeds, has several diseases which are passed on from parent to offspring. As diagnostic ... It is related to a glycogen storage disorder. PPSM has been traced to three specific bloodlines with an autosomal recessive ... Another genetic disease to affect Quarter horses is Glycogen Branching Enzyme Deficiency (GBED). Ten percent of Quarter horses ... Inherited Diseases in Quarter Horses. Many livestock breeds suffer from genetic diseases and the Quarter horse is no different ...
... is a rare inherited condition in which the body is not able to break down glycogen. Glycogen is an important source of energy ... GSD V is an autosomal recessive genetic disorder. This means that you must receive a copy of the nonworking gene from both ... National Organization for Rare Disease Disorders -- rarediseases.info.nih.gov/diseases/6528/glycogen-storage-disease-type-5 ... glycogen storage disease (GSD V) is a rare inherited condition in which the body is not able to break down glycogen. Glycogen ...
autosomal recessive chronic granulomatous disease, see Chronic granulomatous disease. *autosomal recessive complete congenital ... Andersen disease, see Glycogen storage disease type IV. *Andersen glycogenosis, see Glycogen storage disease type IV ... autosomal recessive localized hypotrichosis, see Autosomal recessive hypotrichosis. *autosomal recessive long QT syndrome (LQTS ... autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia, see Autosomal recessive axonal neuropathy with ...
autosomal recessive genetic disorder. This means that you must receive a copy of the nonworking gene from both parents. A ... Type V glycogen storage disease. Definition. Type V glycogen storage disease (GSD V) is a rare inherited condition in which the ... National Organization for Rare Disease Disorders -- rarediseases.info.nih.gov/diseases/6528/glycogen-storage-disease-type-5 ... Glycogen storage diseases. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders ...
Genetic features. The mode of inheritance is autosomal recessive, and the gene encoding for acid alpha-glucosidase has been ... Both forms of the disease are inherited in an autosomal recessive manner. The Wolman disease phenotype is characterized by ... Glycogen Storage Disease Type II. Glycogen storage disease type II, or acid alpha-glucosidase (acid maltase) deficiency, is an ... Batten disease, or neuronal ceroid lipofuscinosis, refers to a group of disorders iinherited in autosomal recessive fashion ...
GSD III is a genetic disorder and it is inherited as an autosomal recessive disease. This means it is caused by a change in a ... Type III Glycogen Storage Disease. Synonyms:. Debrancher Deficiency, Cori Disease, Forbes Disease, Limit Dextrinosis ... Metabolic Diseases of Muscle. "Living With Metabolic Myopathies". "Glycogen Storage Disease Type III Diagnosis and Management ... Glycogen Storage Diseases Handbook. Type III GSD is caused by a deficiency of glycogen debrancher enzyme (GDE) activity. ...
... metabolic disorders that result from a defect in any one of several enzymes required for either glycogen synthesis or glycogen ... The glycogen storage diseases (GSDs) are a group of inherited ... GSD type VII is an autosomal recessive genetic disorder. The ... 3.5Glycogen storage disease type IIb - Danon disease. Glycogen storage disease type IIb (Danon Disease) (OMIM 300257) is a ... 6Glycogen storage disease type VII - Tarui disease. Glycogen storage disease type VII, otherwise known as Tarui disease, was ...
Study metabolic insights from genetic diseases flashcards from Annna Oopp ... deficiency of glycogen phosphorylase in the liver. prevents the liver from breaking down its glycogen stores - gluconeogenesis ... autosomal recessive 14 what causes mcardles disease and how does this lead to the condition? ... metabolic insights from genetic diseases Flashcards Preview metabolism , metabolic insights from genetic diseases , Flashcards ...
autosomal recessive. fashion. There is no cure or specific treatment but the disease can be managed with moderate-intensity ... What is glycogen storage disease type 5? Glycogen storage disease type 5 (GSDV) is a genetic disorder that prevents the body ... Diseases expand submenu for Diseases * Browse A-Z * Find Diseases By Category expand submenu for Find Diseases By Category * ... Does glycogen storage disease type 5 cause fatty liver? We are not aware of an association between glycogen storage disease ...
... or glycogen synthetase deficiency, commonly appears in infancy and early childhood with fasting hypoglycemia accompanied by ... Inheritance is autosomal recessive, and parents have a 25% risk of producing an affected offspring with each pregnancy. ... family of the affected child to a medical geneticist or genetic counselor to review the inheritance of glycogen-storage disease ... Glycogen-Storage Disease Type 0 (GSD-0) (Glycogen Synthetase Deficiency)) and Glycogen-Storage Disease Type 0 (GSD-0) (Glycogen ...
Recent advances in genetic research have paved the way for more effective identification and screening of genetic diseases in ... Autosomal recessive - Two copies of the mutation must be inherited. Glycogen Branching Enzyme Deficiency (GBED) Quarter Horses ... Genetic diseases: 101. Genetic diseases in the horse are caused by a mutation of a specific gene that ultimately results in the ... "Genetic diseases can either have what we call a dominant or a recessive mode of inheritance," explains deKloet. In the case of ...
The autosomal recessive forms of glycogen storage disease IX affect males and females in equal numbers. The X-linked forms ... Hers disease, also known as glycogen storage disease type VI (GSD-VI), is a rare genetic disorder characterized by deficiency ... Subdivisions of Glycogen Storage Disease Type IX. *glycogen storage disease type Ixa ... glycogen storage diseases). The underlying cause is different for each glycogen storage disease. GSD-IX was first described in ...
Disease by Cheryl Scott Pompes disease is a genetic disorder that causes a cellular buildup of the complex sugar glycogen. Its ... The disease is inherited in an autosomal recessive pattern.…. Add Comment April 14, 2015 ... researchers have classified three forms of Pompe disease (also called glycogen storage disease type II or acid maltase ...
1995) Genetic basis of glycogen storage disease type I: prevalent mutations at the glucose-6-phosphatase locus. Am J Hum Genet ... Gaucher diseaseis another rare autosomal recessive disorder characterized by a deficiency of lysosomal beta-glycosidase, which ... Rare genetic or metabolic diseases. Unexplained PAH has been reported in patients with certain rare genetic or metabolic ... Pulmonary arterial hypertension has been associated with type Ia glycogen storage disease(Von Gierke disease) in fewer than 10 ...
... imitate some types of periodontal diseases. Most of these syndromes have autosomal‐recessive characterization and can be seen ... granulomatous disease, agranulocytosis, Langerhans cell disease, glycogen storage disease, hypophosphatasia, leucocyte ... There is a lot of genetic research about consanguineous marriage and its detrimental effects on offspring. Although ... We do not have enough of an understanding of the effects of consanguineous marriage on oral and periodontal diseases. In this ...
Open Access journal that publishes case reports and case series focusing on diseases caused by hereditary predisposition or ... Glycogen storage disease type III (GSDIII) is a rare metabolic disorder with autosomal recessive inheritance, caused by ... 3Center of Genetic Diseases, Emergency Childrens Hospital, University of Medicine and Pharmacy, Motilor Street 68, 400370 Cluj ... A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa. Anca Zimmermann,1 ...
It can be further divided as adult-onset and infantile-onset Pompe diseases. As the disease is an autosomal recessive ... Till date, researchers have identified over 300 genetic mutation types that lead to disease manifestation. Though there is no ... resulting in accumulation of glycogen to toxic levels in the lysosomes of the cells. The buildup of glycogen in certain tissues ... Lysosomal storage diseases (LSDs) are a group of progressive, autosomal recessive, and hereditary disorders characterized by ...
Report forecast the global Pompe disease treatment market to grow at a CAGR of 11.85% during the period 2016-2020. ... It can be further divided as adult-onset and infantile-onset Pompe diseases. As the disease is an autosomal recessive ... Till date, researchers have identified over 300 genetic mutation types that lead to disease manifestation. Though there is no ... resulting in accumulation of glycogen to toxic levels in the lysosomes of the cells. The buildup of glycogen in certain tissues ...
... clinicaltrials.gov This study will evaluate patients with autosomal recessive polycystic kidney disease (ARPKD) and congenital ... Glycogen Storage Disease Type I. An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, ... Polycystic Kidney, Autosomal Recessive. A genetic disorder with autosomal recessive inheritance, characterized by multiple ... Autosomal Recessive Polycystic Kidney Disease. Location. National Institutes of Health Clinical Center, 9000 Rockville Pike. ...
Glycogen Storage Disease Type III [AGL]: An autosomal recessive metabolic disorder caused by deficiency of the glycogen ... Diseases. Jewish Genetic Diseases. Diseases Common to All Jewish Groups. Ashkenazi Jewish Diseases. Sephardic-Mizrahi Diseases ... Genetic Heritage. Ethnicity and Genetic Diseases. Ethnicity vs. Expanded Carrier Screening. Carrier Frequencies by Ethnicity ... Jewish Genetic Disease Consortium. 1515 Route 202 - #121. Pomona, NY 10970. 855-642-6900. [email protected] ...
... orders involving the metabolic pathways of glycogen. Etiology Type Ib of the disease is transmitted by an autosomal reces- sive ... type Ib Definition Glycogen storage diseases are a rare group of genetic dis- ... Hand-Schüller-Christian disease and Let- terer-Siwe disease are disseminated forms and appear with multiple oral ulcerations ... Usage subject to terms and conditions of license 190 Ulcerative Lesions Glycogen Storage Disease, ...
... resources and questions answered by our Genetic and Rare Diseases Information Specialists for Glycogen storage disease type 12 ... Autosomal recessive. inheritance. 0000007 Cholecystitis. Gallbladder inflammation 0001082 Cholelithiasis. Gallstones 0001081 ... Glycogen storage disease type 12 Title Other Names:. GSD12; Glycogen storage disease 12; Aldolase A deficiency; GSD12; Glycogen ... Diseases expand submenu for Diseases * Browse A-Z * Find Diseases By Category expand submenu for Find Diseases By Category * ...
Normally, excess glucose is stored in many tissues as glycogen. If energy is needed, glucose molecules are removed f... ... Glycogen storage disease type IV (GSD IV) of the Norwegian forest cat is an inherited abnormality of glucose metabolism. ... Disease. Glycogen storage disease type IV (GSD IV) of the Norwegian forest cat is an inherited abnormality of glucose ... Glycogen storage disease type IV (GSD IV) is an inherited abnormality of glucose metabolism.... more ...
DeficiencyDisordersPolycystic KidneyTissuesDefectDominantMetabolic disorderMyopathyRare autosomal recessive conditionSynthaseCongenitalCystic FibrosisGBEDForm of glycogenNeuromuscularGaucher DiseaseBuildupLiver glycogenMuscle glycogenMoleculesForms of glycogen storageSeverityMusclesAshkenazi JewishInsolublePhenotypeAccumulatesFatalPhenotypesAbnormalities
- Pompe disease is a rare disorder caused by the deficiency of the acid alpha-glucosidase enzyme. (science20.com)
- Another genetic disease to affect Quarter horses is Glycogen Branching Enzyme Deficiency (GBED) . (infobarrel.com)
- Type III GSD is caused by a deficiency of glycogen debrancher enzyme (GDE) activity. (agsdus.org)
- Deficiency of GDE results in glycogen with short outer chains in liver, muscle, and heart tissues. (agsdus.org)
- Spiegel R, Mahamid J, Orho-Melander M, Miron D, Horovitz Y. The variable clinical phenotype of liver glycogen synthase deficiency. (medscape.com)
- Liver glycogen synthase deficiency: a rarely diagnosed entity. (medscape.com)
- Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia. (medscape.com)
- Aynsley-Green A, Williamson DH, Gitzelmann R. Asymptomatic hepatic glycogen-synthetase deficiency. (medscape.com)
- Hepatic glycogen synthetase deficiency. (medscape.com)
- Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations. (medscape.com)
- Glucose homeostasis in adulthood and in pregnancy in a patient with hepatic glycogen synthetase deficiency. (medscape.com)
- Glycogen storage disease type IX (GSD-IX) is a group of at least four disorders characterized by a deficiency of the enzyme phosphorylase kinase. (rarediseases.org)
- They reported on a young girl with phosphorylase kinase deficiency of the liver that was consistent with autosomal recessive inheritance. (rarediseases.org)
- Since the disorder was identified in 1932 by Dutch pathologist J.C. Pompe, researchers have classified three forms of Pompe disease (also called glycogen storage disease type II or acid maltase deficiency): classic infantile-onset, nonclassic infantile-onset, and late-onset. (bioprocessintl.com)
- Glycogen storage disease type III (GSDIII) is a rare metabolic disorder with autosomal recessive inheritance, caused by deficiency of the glycogen debranching enzyme. (hindawi.com)
- Glycogen Storage Disease Type III [AGL]: An autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. (jewishgeneticdiseases.org)
- Pompe disease is an autosomal recessive metabolic neuromuscular disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). (biomedcentral.com)
- Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease (see this term) characterized by hemolytic anemia with or without myopathy or intellectual deficit. (cdc.gov)
- Deficiency of GBE activity leads to abnormal glycogen accumulation in myocytes, hepatocytes, and neurones, causing variably progressive, benign to lethal organ dysfunctions. (labogen.com)
- Glycogen-branching enzyme deficiency (GBED) is an inheritable glycogen storage disease affecting American Quarter Horses and American Paint Horses. (wikipedia.org)
- Most foals with glycogen-branching enzyme deficiency (GBED) are aborted (usually in the second trimester), or are stillborn, and those that survive live only for a few months. (wikipedia.org)
- Gaucher disease is an inherited metabolic disease that is caused by a deficiency of the enzyme, beta-glucocerebrosidase, which, in turn, results in an accumulation of the fat, glucosyl. (rareshare.org)
- Glucose Galactose Malabsorption Deficiency is a genetic disorder where the small intestine is unable to absorb and transport glucose and galactose in food. (rareshare.org)
- Glucose-6-Phosphate Dehydrogenase Deficiency is a hereditary disease characterised by abnormally low levels of glucose-6-phosphate dehydrogenase. (rareshare.org)
- Glycogen Storage Disease Type 1 is a genetic disorder resulting from deficiency of the enzyme glucose-6-phosphatase. (rareshare.org)
- textabstractGlycogen storage disease type II (GSDII) is caused by lysosomal acid alpha -glucosidase deficiency. (worldwidescience.org)
- Muscle type phosphofructokinase deficiency is an inherited glycogen storage disease. (laboklin.co.uk)
- Phosphofructokinase Deficiency is inherited in an autosomal recessive trait. (laboklin.co.uk)
- The genetic defects leading to Phosphofructokinase Deficiency in the English Springer Spaniels has been identified. (laboklin.co.uk)
- I own a stallion that we are going to be using for breeding, but he is positive for Glycogen Branching Enzyme Deficiency (GBED). (aaep.org)
- Glycogen Branching Enzyme Deficiency (GBED) is a genetic, autosomal recessive defect carried by up to 10% of Quarter Horses, Paint and related breeds. (aaep.org)
- Type Ia, or von Gierke's disease, is caused by glucose-6-phosphatase deficiency in the liver, kidney, and small intestine. (thefreedictionary.com)
- According to researchers at Boston University, Boston, Massachusetts, it is an autosomal recessive metabolic disease that is due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine. (ndnr.com)
- A genetic mutation leads to a deficiency in the glycogen debranching enzyme (GDE) in liver and muscle. (orivet.com)
- Glycogen storage disease type III (GSD III) is a very rare disorder caused by a deficiency in the activities of glycogen debranching enzymes (amylo-1-6-glucosidase and 4-alpha-glucanotransferase). (bvsalud.org)
- Glycogen Storage Disease V, also known as glycogen storage disease type v , is related to adenosine monophosphate deaminase 1 deficiency and myoglobinuria . (malacards.org)
- E00-E35 - Endocrine diseases (E00-E07) Disorders of thyroid gland (E00) Congenital iodine-deficiency syndrome (E01) Iodine-deficiency-related thyroid disorders and allied conditions (E02) Subclinical iodine-deficiency hypothyroidism (E03) Other hypothyroidism (E030) Congenital hypothyroidism with diffuse goitre (E031) Congenital hypothyroidism without goitre (E032) Hypothyroidism due to medicaments and other. (statemaster.com)
- Phosphofructokinase deficiency is a very rare autosomal recessive disorder, which belongs to group of rare inborn errors of metabolism called glycogen storage disease. (frontiersin.org)
- Phosphofructokinase deficiency (OMIM 171 850) is a very rare autosomal recessive condition with heterogeneous clinical symptoms, mainly characterized by myopathy and/or haemolysis ( Hirano and Di Mauro, 1999 ). (frontiersin.org)
- Pompe disease (acid alpha-glucosidase deficiency, OMIM 232300) is a rare lysosomal storage disorder due to autosomal recessive mutations in the GAA gene. (dovepress.com)
- It has also been called acid maltase deficiency and glycogen storage disease type II. (dovepress.com)
- Pompe disease is an autosomal recessive inherited disorder of glycogen metabolism due to a deficiency of the lysosomal enzyme, acid alpha-glucosidase (GAA) (also called acid maltase), resulting from mutations in the GAA gene (EC 22.214.171.124). (dovepress.com)
- Historically, it has been classified as a glycogen storage disease (type II), an enzyme deficiency (acid maltase deficiency), and more recently as a lysosomal storage disease. (dovepress.com)
- In 1963, HG Cori classified it as glycogen storage disease type II and, following the discovery of the lysosome by de Duve, Hers determined that the intra-lysosomal glycogen deposition was secondary to a deficiency of acid alpha-1,4 glucosidase (acid maltase), thus the first known lysosomal storage disorder. (dovepress.com)
- 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 57Disease definitionGlycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease (see this term) characterized by hemolytic anemia with or without myopathy or intellectual deficit. (malacards.org)
- Glycogen Storage Disease Xii, also known as aldolase a deficiency , is related to hemolytic anemia , and has symptoms including short neck , ptosis and intellectual disability . (malacards.org)
- 53 Aldolase A deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia (Kishi et al. (malacards.org)
- 72 Aldolase A deficiency, also called ALDOA deficiency, red cell aldolase deficiency or glycogen storage. (malacards.org)
- Not since the discovery that dietary modifications could alter the outcome of inborn errors of metabolism, such as phenylketonuria (PKU), galactosemia, and medium chain acyl carnitine deficiency (MCAD), has there been such hope for both children and adults diagnosed with these serious and often lethal genetic disorders. (nursingworld.org)
- Glucose-6-phosphatase deficiency (G6P deficiency), or glycogen storage disease type I (GSDI), is a group of inherited metabolic diseases, including types Ia and Ib, characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. (biomedcentral.com)
- Glucose-6-phosphatase deficiency or G6P deficiency or glycogen storage disease type I or GSDI or type I glycogenosis or Von Gierke disease or Hepatorenal glycogenosis. (biomedcentral.com)
- [1,There is degeneration of muscle due to progressive intracellular accumulation of glycogen as a result of deficiency of lysosomal enzyme, acid α -glucosidase (GAA). (scielo.org.za)
- According to researchers at Boston University, Boston, Massachusetts, it is an autosomal recessive metabolic disease that is due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine.4 The accumulated fructose-1-phosphate inhibits glycogen breakdown and glucose synthesis, thereby causing severe hypoglycemia following ingestion of fructose. (pointnatural.com)
- Canavan disease (aspartoacylase deficiency) is a progressive neurologic disease characterized by increased head circumference, decreasing muscle tone and motor activity, progressive loss of visual responsiveness, and mental retardation. (questdiagnostics.com)
- Gaucher disease is a lysosomal glycolipid storage disorder caused by an enzymatic deficiency (acid beta- galactosidase deficiency). (questdiagnostics.com)
- Pompe disease is an autosomal recessive disorder caused by a deficiency in 1,4-alpha-glucosidase (EC.126.96.36.199), the enzyme required to hydrolyze lysosomal glycogen to glucose. (scienceexchange.com)
- Glycogen storage disease type 13 (GSD13), also known as β-enolase deficiency, is an inherited disease of the muscles . (nih.gov)
- Pompe disease is also known as acid maltase deficiency or glycogen storage disease type II. (cuh.nhs.uk)
- Glycogen Branching Enzyme Deficiency (GBED) is a fatal condition caused by the bodies' inability to properly store sugar. (animalgenetics.eu)
- Animal Genetics offers DNA testing for Glycogen Branching Enzyme Deficiency (GBED). (animalgenetics.eu)
- Tay-Sachs disease is the best-known Jewish genetic disorder and is caused by a deficiency of an enzyme called hexosaminidase A (or hex A). Lack of this enzyme affects the brain and the nervous system, causing rapid and progressive deterioration, with death usually occurring by the age of 6. (jfcssnj.org)
- The disease results from deficiency of an enzyme that releases glucose from glycogen. (medindia.net)
- Type I glycogen storage disease is caused by deficiency of the enzyme glucose-6-phosphatase in liver, kidney, and intestinal mucosa (inner lining of the intestine). (medindia.net)
- Enzyme deficiency leads to the accumulation of glycogen in tissues. (medindia.net)
- There are more than 20 subtypes classified by the specific enzyme deficiency, affected tissue, and disease phenotype. (egl-eurofins.com)
- Glycogen storage diseases leading to glycogen deficiency. (medindia.net)
- Lysosomal storage diseases describe a heterogeneous group of dozens of rare inherited disorders characterized by the accumulation of undigested or partially digested macromolecules, which ultimately results in cellular dysfunction and clinical abnormalities. (medscape.com)
- Lysosomal storage diseases are generally classified by the accumulated substrate and include the sphingolipidoses, oligosaccharidoses, mucolipidoses, mucopolysaccharidoses (MPSs), lipoprotein storage disorders, lysosomal transport defects, neuronal ceroid lipofuscinoses and others. (medscape.com)
- Accumulated data indicate that hematopoietic stem cell transplantation may be effective under optimal conditions in preventing the progression of central nervous system symptoms in neuronopathic forms of lysosomal storage diseases (such as Krabbe disease), including some of the mucopolysaccharidoses, oligosaccharidoses, sphingolipidoses, and lipidoses as well as peroxisome disorders such as X-linked adrenoleukodystrophy. (medscape.com)
- In general, transplantation yields the best results when performed early in the course of the disease (ie, in an asymptomatic affected sibling of a child with a lysosomal storage disorder), in centers with experience in performing transplantations to treat inherited metabolic disorders, and in patients healthy enough to tolerate the conditioning and transplantation regimen. (medscape.com)
- Refer the patient to a dietitian experienced with glycogen-storage disease type 0 and the management of disorders that increase the risk of hypoglycemic episodes. (medscape.com)
- GSD-IX is part of a larger group of disorders in which the body cannot metabolize glycogen into glucose (glycogen storage diseases). (rarediseases.org)
- The Evian classification (3,4) consisted of five categories ( Table 1 ) in which PH diseases were grouped according to specific therapeutic interventions directed at dealing with the cause of: 1) PAH, 2) pulmonary venous hypertension, 3) PH associated with disorders of the respiratory system or hypoxemia, 4) PH caused by thrombotic or embolic diseases, and 5) PH caused by diseases affecting the pulmonary vasculature. (onlinejacc.org)
- Lysosomal storage diseases (LSDs) are a group of progressive, autosomal recessive, and hereditary disorders characterized by the accumulation of specific substrates and variable age of onset and clinical symptoms. (sbwire.com)
- New genetic disorders arise spontaneously and continually in all species and any breed. (vin.com)
- Other disorders are inherited dominantly, but when they are late-onset, the signs of disease are not apparent until an age when affected animals may have already been used for breeding to produce the next generation. (vin.com)
- Blueprint Genetics / Tests / Panels / Metabolic Disorders / Glycogen Storage Disorde. (blueprintgenetics.com)
- Is ideal for patients with a clinical suspicion of glycogen storage disorders or Lafora disease. (blueprintgenetics.com)
- Recessive disorders were found to be the most common. (worldcatcongress.org)
- He further pointed out that recessive disorders could be eliminated two to three generations if there was a genetic test available. (worldcatcongress.org)
- We must consider the damage that genetic disorders such as HYPP, HERDA, CID and others have caused in large populations of horses. (aaep.org)
- In collaboration with colleagues at Stanford, I am working to develop induced pluripotent stem cell (iPSC) models of genetic disorders associated with developmental disability. (stanford.edu)
- Glycogen storage diseases, also known as glycogenoses, are genetically linked metabolic disorders that involve the enzymes regulating glycogen metabolism. (thefreedictionary.com)
- In this review, the physiology of energy metabolism in muscle is described, followed by the presentation of distinct disorders affecting skeletal and cardiac muscle: glycogen storage diseases types III, V, VII, fatty acid oxidation defects, and respiratory chain defects (i.e., mitochondriopathies). (hindawi.com)
- This is a table of frequently asked genetic disorders in PG entrance exams. (rxpgonline.com)
- Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. (rarediseases.org)
- The purpose of this study was to review the current literature concerning periodontal disease in children and adolescents associated with the most common systemic disorders. (clinmedjournals.org)
- According to the International Workshop in Periodontics classification (1999), systemic disorders are divided into hematological and genetic disorders. (clinmedjournals.org)
- The treatment of periodontal disease in children with systemic disorders is a challenge. (clinmedjournals.org)
- Systemic diseases are divided into hematological and genetic disorders [ 9 ]. (clinmedjournals.org)
- Skeletal muscle diseases, or myopathies, are disorders with structural changes or functional impairment of muscle. (doctorlib.info)
- On occasion, disorders affecting the motor nerve cell bodies in the spinal cord (anterior horn cell disease), the neuromuscular junction, or peripheral nerves can mimic findings of myopathy. (doctorlib.info)
- Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed? (cegat.de)
- The current cases illustrate the value of novel genetic testing for rare genetic disorders with neuromuscular phenotypes, especially in case of clinical heterogeneity. (cegat.de)
- We argue that genetic testing by gene panels or whole exome sequencing should be considered early in the diagnostic procedure of unresolved neuromuscular disorders. (cegat.de)
- The lysosomal storage diseases (LSDs) are a group of disorders heralding in a new era in the treatment of genetic diseases. (nursingworld.org)
- ERT is not a cure for these disorders, but it can greatly modify or attenuate the phenotype (the signs and symptoms and severity of the condition) and disease progression. (nursingworld.org)
- The LSDs are a group of over 40 different disorders characterized by the lack of sufficient enzymatic activity to prevent the accumulation of specific macromolecules, such as glycosphingolipids (a variety of different lipids), mucopolysaccharides, or glycogen, in various tissues. (nursingworld.org)
- The selectivity of PTC124 for premature termination codons, its well characterized activity profile, oral bioavailability and pharmacological properties indicate that this drug may have broad clinical potential for the treatment of a large group of genetic disorders with limited or no therapeutic options. (nih.gov)
- Since all of these disorders are autosomal recessive, both parents must be carriers for the couple to have an affected child. (questdiagnostics.com)
- A small number of cases are inherited genetic disorders (familial). (naturdoctor.com)
- Still, for most of these neurometabolic disorders there are neither cures nor disease- modifying therapies, and novel animal models are needed for elucidation of disease pathology and identification of potential therapeutic agents. (sdbonline.org)
- These include myocardial diseases (10% to 15% of cases of SCD), primary electrophysiological (EP) problems (5% of cases), and rare vascular disorders. (onlinejacc.org)
- JFCS, together with Genzyme, is committed to educating and informing the community about Jewish genetic diseases and disorders. (jfcssnj.org)
- We have provided a basic description of the five genetic disorders found in stock horses (Quarter Horses, Paints, Morgans, etc. (blueroans4u.com)
- Glycogen storage disorders (GSDs) are a group of inherited genetic defects of glycogen metabolism. (egl-eurofins.com)
- Confirmation of a clinical diagnosis of glycogen storage disorders (GSDs). (egl-eurofins.com)
- Carrier testing in adults with a family history of glycogen storage disorders (GSDs). (egl-eurofins.com)
- Autosomal recessive polycystic kidney disease (ARPKD), the most common pediatric ciliopathy, is characterized by cystic degeneration of the kidneys and congenital hepatic fibrosis (CHF) of the liver. (bioportfolio.com)
- OFD-I is characterized by polycystic kidney disease, facial dysmorphism, and oral, digital and brain anomalies including cerebellar agenesis with or without Dandy-Walker malformation. (bioportfolio.com)
- The build-up of glycogen causes progressive muscle weakness ( myopathy ) throughout the body and affects various body tissues, particularly in the heart , skeletal muscles , liver and nervous system . (science20.com)
- Glycogen is an important source of energy that is stored in all tissues, especially in the muscles and liver. (medlineplus.gov)
- Glycogen is a complex sugar and a source of fuel for many body tissues. (infobarrel.com)
- The abnormal glycogen is not soluble and causes damage to tissues where it collects (liver and/or muscle). (agsdus.org)
- Periodontitis is defined as an inflammatory disease of supporting tissues of teeth characterized by progressive destruction of the periodontal ligament and alveolar bone. (intechopen.com)
- The buildup of glycogen in certain tissues and organs, especially in the muscles, hinders the normal functions of the organs. (sbwire.com)
- Normally, excess glucose is stored in many tissues as glycogen. (labogen.com)
- When this cannot occur glycogen accumulates in tissues, leading to organ damage over time. (orivet.com)
- Among PMEs, LD is unique because of the rapid neurological deterioration of patients and the appearance of insoluble glycogen-like (polyglucosan) inclusions, named Lafora bodies (LBs), in the brain and peripheral tissues [ 4 , 5 ]. (mdpi.com)
- Periodontal diseases are inflammatory reactions that affect the supporting tissues of the teeth, which consist of: Gingiva, periodontal ligament, root cementum and alveolar bone. (clinmedjournals.org)
- Glycogen then builds up to toxic levels in the lysosomes, damaging the body's organs and tissues. (claritygx.com)
- Pathologically, the disease is characterized by the presence of polyglucosan intracellular inclusion bodies called Lafora bodies in neurons and other tissues. (medlink.com)
- Lafora disease is autosomal recessive progressive myoclonic epilepsy characterized by the accumulation of insoluble abnormal glycogen deposits in the brain and peripheral tissues. (medlink.com)
- This results in accumulation of abnormal amounts of glycogen in certain tissues. (medindia.net)
- It is the only glycogen storage disease with a defect in lysosomal metabolism , and was the first glycogen storage disease to be identified-in 1932. (science20.com)
- Etiology Type Ib of the disease is transmitted by an autosomal reces- sive trait, and is caused by a defect in the microsomal translocate for glucose 6-phosphate. (documentaryheaven.com)
- Myopathy is caused by the accumulation of glycogen in muscle tissue due to the metabolic defect and is also known as glycogenosis type VII or Tarui disease. (frontiersin.org)
- Glycogen storage disease type I (GSDI) is a group of rare inherited diseases resulting from a defect in the glucose-6-phosphatase (G6Pase) system which has a key role in glucose homeostasis as it is required for the hydrolysis of glucose-6-phosphate (G6P) into glucose and inorganic phosphate (Pi). (biomedcentral.com)
- Severe congenital neutropenia (SCN) is a rare heterogenous disorder characterized by chronic severe neutropenia (absolute neutrophil count [ANC] less than 500/uL) and arrest of neutrophil maturation at the promyelocyte/myelocyte stage, due to a constitutional genetic defect. (clinicaladvisor.com)
- Identification of the precise genetic defect is important, as molecular analysis is likely to expand the clinical spectrum of GSDs, may provide data relevant to prognosis and future therapeutic intervention and is important for carrier testing and early prenatal diagnosis. (egl-eurofins.com)
- autosomal recessive, autosomal dominant, X-linked diseases. (univr.it)
- Autosomal Dominant, 100% penetrance . (rxpgonline.com)
- Autosomal Dominant, short arm of chromosome 3. (rxpgonline.com)
- The genetic disorder suggested to be an autosomal dominant trait. (worldsecuresystems.com)
- Another ILAE report classifies all "progressive myoclonus epilepsies" amongst epilepsies with adolescence-adult onset together with juvenile absence epilepsy , juvenile myoclonic epilepsy , epilepsy with generalized tonic-clonic seizures alone , autosomal dominant epilepsy with auditory features, and other familial temporal lobe epilepsies ( Berg et al 2010 ). (medlink.com)
- Autosomal recessive, autosomal dominant and sporadic forms exist. (clinicaladvisor.com)
- Central core disease is inherited in an autosomal dominant pattern or by an autosomal recessive pattern. (mda.org.au)
- Galactosemia is a rare genetic metabolic disorder characterized by the inability to properly metabolize the sugar galactose. (rareshare.org)
- Glycogen Storage Disease Type 2 is a rare, autosomal recessive metabolic disorder. (rareshare.org)
- Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. (mendelian.co)
- 71 Glycogen storage disease 12: A metabolic disorder associated with increased hepatic glycogen and hemolytic anemia. (malacards.org)
- Ventricular enlargement (due to myopathy in the heart) is commonly documented in humans with glycogen storage disease type IIIa, however the incidence of related cardiomyopathy in curly coated retrievers is not known. (orivet.com)
- PSSM1 - PolySaccharide Storage Myopathy (PSSM) Type 1 is an inherited muscle disease that affects many and divers breeds of horses. (worldsecuresystems.com)
- The most important neuromuscular diseases associated with this pattern of weakness include myasthenia gravis, amyotrophic lateral sclerosis, late-onset nemaline myopathy, hyperparathyroidism, focal myositis, and some forms of inclusion body myopathy. (doctorlib.info)
- Ectopic expression of the disease-associated mutant form of hnRNPA2B1 or Hrb98DE in fly muscle resulted in progressive, age-dependent cytoplasmic inclusion pathology, as observed in humans with hnRNPA2B1-related myopathy. (sdbonline.org)
- The disease is characterized by abnormalities of skeletal (voluntary) muscle (congenital myopathy). (mda.org.au)
- Only animals with two copies of the genetic variant (gbed/gbed) are affected. (centerforanimalgenetics.com)
- The horse has no copies of the genetic variant causative for GBED/GSD IV and therefore cannot pass it on to its offspring. (centerforanimalgenetics.com)
- Because the disease is autosomal recessive, affected foals must be homozygous for the lethal GBED allele, meaning both parents must be heterozygous for the allele. (wikipedia.org)
- After a person eats, there is too much glucose in the blood, so the body stores the extra glucose in the form of glycogen in the liver and muscles (much like one might deposit extra money in a bank). (agsdus.org)
- Branched polymers of glucose are universally used for energy storage in cells, taking the form of glycogen in animals, fungi, Bacteria, and Archaea, and of amylopectin in plants. (biomedcentral.com)
- Broadly speaking, the GSDs can be divided into those with hepatic involvement, which manifest mainly as hypoglycemia, and those associated with neuromuscular disease and weakness. (blueprintgenetics.com)
- Advancements in genetic testing now allow early identification of previously unresolved neuromuscular phenotypes. (cegat.de)
- ALS is a rapidly progressive neuromuscular disease caused by the destruction of nerve cells in the brain and spinal cord. (naturdoctor.com)
- The following results were obtained: 8 cases had Gaucher disease, 8 cases had glycogen storage disease and 2 cases had Niemann-Pick disease. (bvsalud.org)
- Gaucher disease is the only one of these diseases for which there is treatment. (bnaimitzvahguide.com)
- Some, such as Tay-Sachs disease, Dysautonomia, and Canavan disease, can lead to the early death of a child, while others such as Gaucher disease can be treated so the individual can lead a normal life. (jfcssnj.org)
- Gaucher disease is an inherited disorder in which a fatty substance builds up in the body, especially in the spleen, liver, and bone marrow, and secondarily in the lungs, kidneys, and intestines. (jfcssnj.org)
- Niche-Disease: Pompe's Disease by Cheryl Scott Pompe's disease is a genetic disorder that causes a cellular buildup of the complex sugar glycogen. (bioprocessintl.com)
- This disorder is caused by a toxic buildup of glycogen and fat in the liver, kidneys, and small intestines. (questdiagnostics.com)
- This disease is caused by buildup of leucine, isoleucine, and valine. (questdiagnostics.com)
- If energy is needed, glucose molecules are removed from glycogen. (labogen.com)
- The ability to add and remove glucose molecules from glycogen efficiently is dependent on its highly branched structure. (labogen.com)
- Subsequently, glycogen molecules are produced with few branches, which greatly decreasing the number of nonreducing ends, drastically slowing the rate at which the molecule can be synthesized or broken down. (wikipedia.org)
- Glycogen is how glucose is stored for later use when it is needed, but this use is dependent on GDE cleaving glucose molecules from stored glycogen. (orivet.com)
- There are also differences in the severity of the effects of the known genetic diseases, adds deKloet. (horsejournals.com)
- Microbial dental plaque and the presence of periodontal pathogens are necessary for the initiation of periodontal disease, but the host defense is the important factor that affects the progression and severity of periodontitis in individuals affected by systemic diseases [ 3 ]. (clinmedjournals.org)
- The severity of the disease is determined by age of onset, organ involvement including the degree of severity of muscle involvement, as well as rate of progression. (scielo.org.za)
- 1% to as little as 5% of normal levels may greatly reduce the severity or eliminate the principal manifestations of disease. (nih.gov)
- The flaw leading to DMD prevents the formation of any dystrophin, while that of BMD allows some protein to be made, accounting for the differences in severity and onset between the two diseases. (encyclopedia.com)
- The severity of the disease and the rate of disease progression varies from person to person. (cuh.nhs.uk)
- When the body needs more energy, certain enzymes convert the glycogen back to glucose and withdraw it from the liver and the muscles (just like one can withdraw spending money from the bank). (agsdus.org)
- When there is excess glycogen, it is stored in the body, primarily in the liver and muscles and, when the body needs more energy, is eventually converted into glucose. (rarediseases.org)
- Glucose cannot be stored as Glycogen → lack of nourishment in muscles and organs. (centerforanimalgenetics.com)
- In a process analogous to putting money in the bank, the body bundles up the extra glucose and stores it as glycogen in the liver and muscles. (thefreedictionary.com)
- Facioscapulohumeral muscular dystrophy (FSH), also known as Landouzy-Dejerine disease, which begins in late childhood to early adulthood and affects both men and women, causing weakness in the muscles of the face, shoulders, and upper arms. (encyclopedia.com)
- Differences among the other diseases in the muscles involved and the ages of onset are less easily explained. (encyclopedia.com)
- Glycogen is a substance that is stored in muscle tissue and is used as an important source of energy for the muscles during movement and exercise. (nih.gov)
- Glycogen is stored in the liver and muscles. (medindia.net)
- While most Jews have heard of Tay-Sachs disease, many are unaware that there are other genetic diseases that occur at a higher rate in people of Ashkenazi Jewish descent. (bnaimitzvahguide.com)
- The carrier rates for the individual diseases in the Ashkenazi Jewish community range from one in fourteen to one in 140, but when looking at the whole panel, there is a one in four chance that an Ashkenazi Jewish person is a carrier of one or more of these diseases. (bnaimitzvahguide.com)
- The Kaiserman Ashkenazi Jewish Genetic Disease Screening program ensures that this screening is accessible to everyone: screening for seven diseases is offered free to students and to engaged and newlywed couples, and is often covered by insurance for people who do not fall into those categories. (bnaimitzvahguide.com)
- and 2) an 11-test panel, which also includes tests for 7 other diseases common among Ashkenazi Jewish individuals. (questdiagnostics.com)
- Approximately one in four people in the Ashkenazi Jewish population is a carrier of a Jewish genetic disease. (jfcssnj.org)
- This protocol will provide longitudinal information regarding progression of renal and hepatic disease in a large cohort of patients, and will elucidate genotype-phenotype correlations. (bioportfolio.com)
- This review presents the genotype-phenotype relations in these diseases. (onlinejacc.org)
- Rarely, off-target copy number variants causative of disease may be identified that may or may not be related to the patient's phenotype. (egl-eurofins.com)
- As a result, glycogen is not broken down completely and accumulates in the liver and/or muscle tissue. (agsdus.org)
- Glycogen accumulates steadily in liver cells and muscle cells, including in the heart. (orivet.com)
- Thus, in the absence of a functional complex glycogen accumulates in LBs. In addition, it has been suggested that the laforin-malin complex participates in alternative physiological pathways, such as intracellular protein degradation, oxidative stress, and the endoplasmic reticulum unfolded protein response. (mdpi.com)
- They will usually alert you to abnormalities they have found in that breed and which they are concerned about, and can often offer advice on what genetic tests are available and where to have them performed. (horsejournals.com)
- In our favor is that simply inherited diseases demonstrate remarkably consistent age of onset, signs, laboratory abnormalities, and progression. (vin.com)
- Mulibrey nanism is a rare autosomal recessive disorder characterized by severe growth retardation and pericardial constriction associated with muscle, liver, brain, and eye abnormalities. (bvsalud.org)
- Although EP abnormalities are readily recognized as important findings in these diseases, abnormalities in cardiac function have more recently been reported in some patients with LQTS. (onlinejacc.org)