• In the classic infantile form of Pompe disease, clinically significant glycogen storage occurs in cardiac muscle. (medscape.com)
  • Within the scope of this syndrome, your cardiac pulse accelerates beyond the typical cadence. (healthblogx.com)
  • In the scenario of Wolff Parkinson White syndrome, the heart cultivates an auxiliary electrical conduit, precipitating these episodes of rapid cardiac percussion. (healthblogx.com)
  • The ECG machinery inscribes any cardiac anomalies propelled by the syndrome. (healthblogx.com)
  • The type of cardiac preexcitation most often seen in people with Danon disease is called the Wolff-Parkinson-White syndrome pattern. (medlineplus.gov)
  • In rare cases, arrhythmias associated with Wolff-Parkinson-White syndrome can lead to cardiac arrest and sudden death. (nih.gov)
  • Capsule?CAPD: Continuous ambulatory peritoneal dialysis?Caps: Capsules?CAPS: Cryopyrin-Associated Periodic Syndromes disorders?CAPTIA Syph G: ?CAPTIA Syph M: ?CAST: Cardiac arrhythmia suppression trials?CAT: Computerized axial tomography?Cataplasm. (kuwaitpharmacy.com)
  • Glycogen storage in skeletal muscle leads to hypotonia and weakness. (medscape.com)
  • Danon disease is an X-linked lysosomal and glycogen storage disorder associated with hypertrophic cardiomyopathy, skeletal muscle weakness, and intellectual disability. (wikipedia.org)
  • Autosomal recessive (AR) disorder caused by deficiency of the lysosomal enzyme acid-α-glucosidase (GAA), leading to generalized accumulation of lysosomal glycogen especially in the heart, skeletal and smooth muscle, and the nervous system. (capsulehealth.one)
  • Glycogen-storage disease type II (GSD II), also known as Pompe disease, is part of a group of metabolic diseases called lysosomal storage disorders (LSDs). (medscape.com)
  • Pompe observed an abnormal accumulation of glycogen in all postmortem tissues examined and described the cardinal pathologic features of this lysosomal storage disorder. (medscape.com)
  • Acid alpha-glucosidase (also known as acid maltase) is a lysosomal hydrolase that is required for the degradation of a small percentage (1-3%) of cellular glycogen. (medscape.com)
  • Indicated in combination with cipaglucosidase alfa, a hydrolytic lysosomal glycogen-specific enzyme, for adults with late-onset Pompe disease (lysosomal acid alpha-glucosidase [GAA] deficiency) weighing ≥40 kg who are not improving on their current enzyme replacement therapy (ERT). (medscape.com)
  • Glycogen-storage disease type II (GSDII), also referred to as Pompe disease, is an autosomal recessive disorder that results from the deficiency of acid alpha-glucosidase, a lysosomal hydrolase. (medscape.com)
  • The LAMP2 gene provides instructions for making a protein called lysosomal associated membrane protein-2 (LAMP-2), which, as its name suggests, is found in the membrane of cellular structures called lysosomes . (medlineplus.gov)
  • Pompe disease, also called glycogen storage disease type II, is a genetically inherited condition caused by insufficient functioning of an enzyme called lysosomal acid alpha-1,4-glucosidase, or just acid alpha-glucosidase, due to a mutation of the GAA gene. (capsulehealth.one)
  • His co-worker Henri G. Hers realised in 1965 that the deficiency of a lysosomal enzyme ( α-glucosidase ) for the breakdown of glycogen could explain the symptoms of Pompe disease. (capsulehealth.one)
  • Danon disease involves a genetic defect (mutation) in a gene called LAMP2, which results in a change to the normal protein structure. (wikipedia.org)
  • Nonetheless, there exists a variant termed familial Wolff Parkinson White syndrome, intertwined with gene mutation at the inception of the disease. (healthblogx.com)
  • Galehdari H, Emami M, Mohammadian G, Khodadadi A, Azmoon S, Baradaran M. Detection of a novel mutation in the GAA gene in an Iranian child with glycogen storage disease type II. (medscape.com)
  • In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. (medlineplus.gov)
  • The mutation of a single gene results in an alternation in the ability of the cell to carry out a single primary chemical reaction. (newworldencyclopedia.org)
  • METHOD: Mutation screening of positional candidate genes was performed in two stages. (neurotransmitter.net)
  • The cellular role of acid alpha-glucosidase is to convert glycogen into glucose within the lysosomes. (medscape.com)
  • However, the deficiency of acid alpha-glucosidase activity does result in the accumulation of structurally normal glycogen in lysosomes and in the cytoplasm of affected individuals. (medscape.com)
  • Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. (medscape.com)
  • n\nWolff-Parkinson-White syndrome often occurs with other structural abnormalities of the heart or underlying heart disease. (nih.gov)
  • Pompe described accumulation of glycogen in muscle tissue in some cases of a previously unknown disorder. (capsulehealth.one)
  • This accumulation was difficult to explain as the enzymes involved in the usual metabolism of glucose and glycogen were all present and functioning. (capsulehealth.one)
  • Glycogen storage diseases (GSDs) are a group of inborn errors of metabolism, typically caused by enzyme defects, resulting in a buildup of glycogen in the liver, muscles, and other organs. (arupconsult.com)
  • inborn errors of metabolism are caused by mutant genes that produce abnormal enzymes whose function is altered. (newworldencyclopedia.org)
  • A faction of researchers also conjecture that the syndrome manifests as a glycogen storage disorder, wherein glycogen remains impervious to conversion into glucose, consequently amassing within the cellular realm. (healthblogx.com)
  • Excessive glycogen storage within lysosomes interrupts normal functioning of other organelles and leads to cellular injury. (medscape.com)
  • It binds to mannose-6-phosphate receptors and then is transported into lysosomes, then undergoes proteolytic cleavage that results in increased enzymatic activity and ability to cleave glycogen. (medscape.com)
  • While the function of the LAMP2 gene is not well understood, it is known that LAMP2 protein is primarily located in small structures within cells called lysosomes. (wikipedia.org)
  • Mutations of conserved residues within this domain are associated with a variety of human hereditary diseases, including congenital myotonia, idiopathic generalized epilepsy, hypercalciuric nephrolithiasis, and classic Bartter syndrome (CLC chloride channel family members), Wolff-Parkinson-White syndrome (gamma 2 subunit of AMP-activated protein kinase), retinitis pigmentosa (IMP dehydrogenase-1), and homocystinuria (cystathionine beta-synthase). (umbc.edu)
  • Merk T, Wibmer T, Schumann C, Krüger S. Glycogen storage disease type II (Pompe disease)--influence of enzyme replacement therapy in adults. (medscape.com)
  • Glycogen breakdown produces glucose-1-phosphate (via glycogenolysis) and glucose (via glycophagy and debranching enzyme activity). (capsulehealth.one)
  • Therapies may include a restrictive diet, dietary supplements, and toxin-removal procedures, as well as enzyme replacement, gene transfer, or organ transplantation. (newworldencyclopedia.org)
  • Because the main pathway for glycogen degradation is not deficient in glycogen-storage disease type II disease, energy production is not impaired, and hypoglycemia does not occur. (medscape.com)
  • Simplified pathway of glycogen synthesis and degradation. (capsulehealth.one)
  • Mutations in the LAMP2 gene lead to the production of very little or no LAMP-2 protein, which may impair the process of transporting cellular material into the lysosome. (medlineplus.gov)
  • We hypothesize that there might be at least three types of autism susceptibility genes/mutations that can be (i) specific to an individual patient or family, (ii) in a genetically isolated sub-population and (iii) a common factor shared amongst different populations. (neurotransmitter.net)
  • The genes/mutations could act alone or interact with other genetic and/or epigenetic or environmental factors, causing autism or related disorders. (neurotransmitter.net)
  • Mutations in the alpha-dystrobrevin gene are associated with Autosomal Dominant type of Noncompaction of the Left Ventricular Myocardium. (bvsalud.org)
  • Mutations in the tafazzin gene are associated with X-Linked Isolated Noncompaction of the Left Ventricular Myocardium. (bvsalud.org)
  • Ordinarily, the instances of Wolff Parkinson White syndrome aren't tethered to familial lineage, a facet which could equip researchers with insights into the hereditary nexus to the malady. (healthblogx.com)
  • Investigators have spotlighted a gene designated PRKAG2, nestled on the elongated arm of chromosome 7, as the architect of familial Wolff Parkinson syndrome. (healthblogx.com)
  • Most metabolic disorders are inherited from one or both parents who carry a defective gene that regulates a particular protein in a class of the body's cells. (newworldencyclopedia.org)
  • The most common arrhythmia associated with Wolff-Parkinson-White syndrome is called paroxysmal supraventricular tachycardia. (nih.gov)
  • Wolff Parkinson syndrome is a congenital enigma, an infrequent medical phenomena impacting the heart's customary circulatory rhythm. (healthblogx.com)
  • The syndrome, albeit congenital, generally unveils itself amidst the age spectrum of 30 to 40. (healthblogx.com)
  • An important gene associated with Dysfibrinogenemia, Congenital is FGA (Fibrinogen Alpha Chain), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Development Angiotensin activation of ERK. (silexon.tech)
  • Frequency is estimated at 1 case per 40,000 population for all 3 variants of glycogen-storage disease type II. (medscape.com)
  • The first stage involved identifying, in unrelated subjects showing linkage to 2q24-q33, genetic variants in exons and flanking sequence within candidate genes and comparing the frequency of the variants between autistic and unrelated nonautistic subjects. (neurotransmitter.net)
  • n\nPeople with Wolff-Parkinson-White syndrome are born with an extra connection in the heart, called an accessory pathway, that allows electrical signals to bypass the atrioventricular node and move from the atria to the ventricles faster than usual. (nih.gov)
  • n\nComplications of Wolff-Parkinson-White syndrome can occur at any age, although some individuals born with an accessory pathway in the heart never experience any health problems associated with the condition. (nih.gov)
  • An integrated prognosis model of pharmacogenomic gene signature and clinical information for diffuse large B-cell lymphoma patients following CHOP-like chemotherapy. (cdc.gov)
  • This domain occurred 12 times on human genes ( 33 proteins). (umbc.edu)
  • Marfan syndrome and related connective tissue disorders in the current era in Switzerland in 103 patients: medical and surgical management and impact of genetic testing. (cdc.gov)
  • This syndrome is catalogued under autosomal dominant, signifying a singular defective gene from merely one parent suffices for the syndrome's emergence. (healthblogx.com)
  • Furthermore, the likelihood of bequeathing a defective gene to the progeny hovers around the fifty percent mark. (healthblogx.com)
  • Nonetheless, the manifestation of Wolff Parkinson White syndrome can segue into additional cardiovascular maladies if the episodes unveil with augmented frequency. (healthblogx.com)
  • Wolff-Parkinson-White syndrome is a condition characterized by abnormal electrical pathways in the heart that cause a disruption of the heart's normal rhythm (arrhythmia). (nih.gov)
  • Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism. (neurotransmitter.net)
  • Two single nucleotide polymorphisms (SNPs) that showed evidence for divergent distribution between autistic and nonautistic subjects were identified, both within SLC25A12, a gene encoding the mitochondrial aspartate/glutamate carrier (AGC1). (neurotransmitter.net)
  • The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. (mousephenotype.org)
  • Pompe's disease presenting as hypertrophic myocardiopathy with Wolff-Parkinson-White syndrome. (medscape.com)
  • Given the enhanced electrical resonance in Wolff Parkinson White syndrome, an ECG stands as the paramount initial diagnostic assay to discern the heart's oscillations. (healthblogx.com)
  • Molecular risk prediction in cutaneous melanoma: a meta-analysis of the 31-gene expression profile prognostic test in 1,479 patients. (cdc.gov)