Metabolic Diseases: Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.Nutritional and Metabolic Diseases: A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances.Obesity: A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY).Insulin Resistance: Diminished effectiveness of INSULIN in lowering blood sugar levels: requiring the use of 200 units or more of insulin per day to prevent HYPERGLYCEMIA or KETOSIS.Lipid Metabolism: Physiological processes in biosynthesis (anabolism) and degradation (catabolism) of LIPIDS.Energy Metabolism: The chemical reactions involved in the production and utilization of various forms of energy in cells.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.Metabolic Syndrome X: A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)Fetal Development: Morphological and physiological development of FETUSES.Diabetes Mellitus, Type 2: A subclass of DIABETES MELLITUS that is not INSULIN-responsive or dependent (NIDDM). It is characterized initially by INSULIN RESISTANCE and HYPERINSULINEMIA; and eventually by GLUCOSE INTOLERANCE; HYPERGLYCEMIA; and overt diabetes. Type II diabetes mellitus is no longer considered a disease exclusively found in adults. Patients seldom develop KETOSIS but often exhibit OBESITY.Adipose Tissue: Specialized connective tissue composed of fat cells (ADIPOCYTES). It is the site of stored FATS, usually in the form of TRIGLYCERIDES. In mammals, there are two types of adipose tissue, the WHITE FAT and the BROWN FAT. Their relative distributions vary in different species with most adipose tissue being white.Prenatal Nutritional Physiological Phenomena: Nutrition of FEMALE during PREGNANCY.Carbohydrate Metabolism, Inborn ErrorsSirtuin 1: A sirtuin family member found primarily in the CELL NUCLEUS. It is an NAD-dependent deacetylase with specificity towards HISTONES and a variety of proteins involved in gene regulation.Tyrosinemias: A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features INTELLECTUAL DISABILITY, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3)Xeroradiography: A photoelectric method of recording an X-ray image on a coated metal plate, using low-energy photon beams, long exposure time and dry chemical developers.Homeostasis: The processes whereby the internal environment of an organism tends to remain balanced and stable.Peroxisome Proliferator-Activated Receptors: TRANSCRIPTION FACTORS that are activated by ligands and heterodimerize with RETINOID X RECEPTORS and bind to peroxisome proliferator response elements in the promoter regions of target genes.Diet, High-Fat: Consumption of excessive DIETARY FATS.Adipocytes: Cells in the body that store FATS, usually in the form of TRIGLYCERIDES. WHITE ADIPOCYTES are the predominant type and found mostly in the abdominal cavity and subcutaneous tissue. BROWN ADIPOCYTES are thermogenic cells that can be found in newborns of some species and hibernating mammals.Neonatal Screening: The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic.Lipid Metabolism Disorders: Pathological conditions resulting from abnormal anabolism or catabolism of lipids in the body.Inflammation: A pathological process characterized by injury or destruction of tissues caused by a variety of cytologic and chemical reactions. It is usually manifested by typical signs of pain, heat, redness, swelling, and loss of function.Liver: A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.Fatty Liver: Lipid infiltration of the hepatic parenchymal cells resulting in a yellow-colored liver. The abnormal lipid accumulation is usually in the form of TRIGLYCERIDES, either as a single large droplet or multiple small droplets. Fatty liver is caused by an imbalance in the metabolism of FATTY ACIDS.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).Adipose Tissue, White: Fatty tissue composed of WHITE ADIPOCYTES and generally found directly under the skin (SUBCUTANEOUS FAT) and around the internal organs (ABDOMINAL FAT). It has less vascularization and less coloration than the BROWN FAT. White fat provides heat insulation, mechanical cushion, and source of energy.Chronobiology Disorders: Disruptions of the rhythmic cycle of bodily functions or activities.Eye Manifestations: Ocular disorders attendant upon non-ocular disease or injury.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.Group III Histone Deacetylases: A subclass of histone deacetylases that are NAD-dependent. Several members of the SIRTUINS family are included in this subclass.Diabetes Mellitus: A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE.Phenylketonurias: A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).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.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.TriglyceridesAdipogenesis: The differentiation of pre-adipocytes into mature ADIPOCYTES.Blood Glucose: Glucose in blood.Maternal Nutritional Physiological Phenomena: Nutrition of a mother which affects the health of the FETUS and INFANT as well as herself.Mice, Inbred C57BLPseudoxanthoma Elasticum: An inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC TISSUE primarily in the skin, eye, and vasculature. At least two forms exist, autosomal recessive and autosomal dominant. This disorder is caused by mutations of one of the ATP-BINDING CASSETTE TRANSPORTERS. Patients are predisposed to MYOCARDIAL INFARCTION and GASTROINTESTINAL HEMORRHAGE.Cardiovascular Diseases: Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM.Dyslipidemias: Abnormalities in the serum levels of LIPIDS, including overproduction or deficiency. Abnormal serum lipid profiles may include high total CHOLESTEROL, high TRIGLYCERIDES, low HIGH DENSITY LIPOPROTEIN CHOLESTEROL, and elevated LOW DENSITY LIPOPROTEIN CHOLESTEROL.Adiposity: The amount of fat or lipid deposit at a site or an organ in the body, an indicator of body fat status.PPAR gamma: A nuclear transcription factor. Heterodimerization with RETINOID X RECEPTOR ALPHA is important in regulation of GLUCOSE metabolism and CELL GROWTH PROCESSES. It is a target of THIAZOLIDINEDIONES for control of DIABETES MELLITUS.Brain Diseases, Metabolic: Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function.Thermogenesis: The generation of heat in order to maintain body temperature. The uncoupled oxidation of fatty acids contained within brown adipose tissue and SHIVERING are examples of thermogenesis in MAMMALS.3T3-L1 Cells: A continuous cell line that is a substrain of SWISS 3T3 CELLS developed though clonal isolation. The mouse fibroblast cells undergo an adipose-like conversion as they move to a confluent and contact-inhibited state.Heptanoates: Salts and esters of the 7-carbon saturated monocarboxylic acid heptanoic acid.Gene Expression Regulation: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.Lipid Metabolism, Inborn Errors: Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.Sirtuins: A homologous family of regulatory enzymes that are structurally related to the protein silent mating type information regulator 2 (Sir2) found in Saccharomyces cerevisiae. Sirtuins contain a central catalytic core region which binds NAD. Several of the sirtuins utilize NAD to deacetylate proteins such as HISTONES and are categorized as GROUP III HISTONE DEACETYLASES. Several other sirtuin members utilize NAD to transfer ADP-RIBOSE to proteins and are categorized as MONO ADP-RIBOSE TRANSFERASES, while a third group of sirtuins appears to have both deacetylase and ADP ribose transferase activities.Prenatal Exposure Delayed Effects: The consequences of exposing the FETUS in utero to certain factors, such as NUTRITION PHYSIOLOGICAL PHENOMENA; PHYSIOLOGICAL STRESS; DRUGS; RADIATION; and other physical or chemical factors. These consequences are observed later in the offspring after BIRTH.Mice, Obese: Mutant mice exhibiting a marked obesity coupled with overeating, hyperglycemia, hyperinsulinemia, marked insulin resistance, and infertility when in a homozygous state. They may be inbred or hybrid.Infant, Newborn: An infant during the first month after birth.PPAR delta: A nuclear transcription factor. It is activated by PROSTACYCLIN.Subcutaneous Fat: Fatty tissue under the SKIN through out the body.Stilbenes: Organic compounds that contain 1,2-diphenylethylene as a functional group.Lipogenesis: De novo fat synthesis in the body. This includes the synthetic processes of FATTY ACIDS and subsequent TRIGLYCERIDES in the LIVER and the ADIPOSE TISSUE. Lipogenesis is regulated by numerous factors, including nutritional, hormonal, and genetic elements.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.Intra-Abdominal Fat: Fatty tissue inside the ABDOMINAL CAVITY, including visceral fat and retroperitoneal fat. It is the most metabolically active fat in the body and easily accessible for LIPOLYSIS. Increased visceral fat is associated with metabolic complications of OBESITY.Retinoid X Receptor alpha: A nuclear transcription factor. Heterodimerization with PPAR GAMMA is important in regulation of GLUCOSE metabolism and CELL GROWTH PROCESSES.Muscle, 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.Receptors, Cytoplasmic and Nuclear: Intracellular receptors that can be found in the cytoplasm or in the nucleus. They bind to extracellular signaling molecules that migrate through or are transported across the CELL MEMBRANE. Many members of this class of receptors occur in the cytoplasm and are transported to the CELL NUCLEUS upon ligand-binding where they signal via DNA-binding and transcription regulation. Also included in this category are receptors found on INTRACELLULAR MEMBRANES that act via mechanisms similar to CELL SURFACE RECEPTORS.Ketosis: A condition characterized by an abnormally elevated concentration of KETONE BODIES in the blood (acetonemia) or urine (acetonuria). It is a sign of DIABETES COMPLICATION, starvation, alcoholism or a mitochondrial metabolic disturbance (e.g., MAPLE SYRUP URINE DISEASE).Glucose Tolerance Test: A test to determine the ability of an individual to maintain HOMEOSTASIS of BLOOD GLUCOSE. It includes measuring blood glucose levels in a fasting state, and at prescribed intervals before and after oral glucose intake (75 or 100 g) or intravenous infusion (0.5 g/kg).Caloric Restriction: Reduction in caloric intake without reduction in adequate nutrition. In experimental animals, caloric restriction has been shown to extend lifespan and enhance other physiological variables.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.AMP-Activated Protein Kinases: Intracellular signaling protein kinases that play a signaling role in the regulation of cellular energy metabolism. Their activity largely depends upon the concentration of cellular AMP which is increased under conditions of low energy or metabolic stress. AMP-activated protein kinases modify enzymes involved in LIPID METABOLISM, which in turn provide substrates needed to convert AMP into ATP.Endoplasmic Reticulum Stress: Various physiological or molecular disturbances that impair ENDOPLASMIC RETICULUM function. It triggers many responses, including UNFOLDED PROTEIN RESPONSE, which may lead to APOPTOSIS; and AUTOPHAGY.Diet: Regular course of eating and drinking adopted by a person or animal.Pregnancy: The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.Body Weight: The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms.Lipolysis: The metabolic process of breaking down LIPIDS to release FREE FATTY ACIDS, the major oxidative fuel for the body. Lipolysis may involve dietary lipids in the DIGESTIVE TRACT, circulating lipids in the BLOOD, and stored lipids in the ADIPOSE TISSUE or the LIVER. A number of enzymes are involved in such lipid hydrolysis, such as LIPASE and LIPOPROTEIN LIPASE from various tissues.Metabolic Networks and Pathways: Complex sets of enzymatic reactions connected to each other via their product and substrate metabolites.Adipokines: Polypeptides produced by the ADIPOCYTES. They include LEPTIN; ADIPONECTIN; RESISTIN; and many cytokines of the immune system, such as TUMOR NECROSIS FACTOR-ALPHA; INTERLEUKIN-6; and COMPLEMENT FACTOR D (also known as ADIPSIN). They have potent autocrine, paracrine, and endocrine functions.Taurochenodeoxycholic Acid: A bile salt formed in the liver by conjugation of chenodeoxycholate with taurine, usually as the sodium salt. It acts as detergent to solubilize fats in the small intestine and is itself absorbed. It is used as a cholagogue and choleretic.Fatty Acids: Organic, monobasic acids derived from hydrocarbons by the equivalent of oxidation of a methyl group to an alcohol, aldehyde, and then acid. Fatty acids are saturated and unsaturated (FATTY ACIDS, UNSATURATED). (Grant & Hackh's Chemical Dictionary, 5th ed)Metabolism: The chemical reactions that occur within the cells, tissues, or an organism. These processes include both the biosynthesis (ANABOLISM) and the breakdown (CATABOLISM) of organic materials utilized by the living organism.Risk Factors: An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.Mitochondria: Semiautonomous, self-reproducing organelles that occur in the cytoplasm of all cells of most, but not all, eukaryotes. Each mitochondrion is surrounded by a double limiting membrane. The inner membrane is highly invaginated, and its projections are called cristae. Mitochondria are the sites of the reactions of oxidative phosphorylation, which result in the formation of ATP. They contain distinctive RIBOSOMES, transfer RNAs (RNA, TRANSFER); AMINO ACYL T RNA SYNTHETASES; and elongation and termination factors. Mitochondria depend upon genes within the nucleus of the cells in which they reside for many essential messenger RNAs (RNA, MESSENGER). Mitochondria are believed to have arisen from aerobic bacteria that established a symbiotic relationship with primitive protoeukaryotes. (King & Stansfield, A Dictionary of Genetics, 4th ed)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.Hep G2 Cells: A human liver tumor cell line used to study a variety of liver-specific metabolic functions.Adiponectin: A 30-kDa COMPLEMENT C1Q-related protein, the most abundant gene product secreted by FAT CELLS of the white ADIPOSE TISSUE. Adiponectin modulates several physiological processes, such as metabolism of GLUCOSE and FATTY ACIDS, and immune responses. Decreased plasma adiponectin levels are associated with INSULIN RESISTANCE; TYPE 2 DIABETES MELLITUS; OBESITY; and ATHEROSCLEROSIS.Body Mass Index: An indicator of body density as determined by the relationship of BODY WEIGHT to BODY HEIGHT. BMI=weight (kg)/height squared (m2). BMI correlates with body fat (ADIPOSE TISSUE). Their relationship varies with age and gender. For adults, BMI falls into these categories: below 18.5 (underweight); 18.5-24.9 (normal); 25.0-29.9 (overweight); 30.0 and above (obese). (National Center for Health Statistics, Centers for Disease Control and Prevention)Dietary Fats: Fats present in food, especially in animal products such as meat, meat products, butter, ghee. They are present in lower amounts in nuts, seeds, and avocados.Sphingolipids: A class of membrane lipids that have a polar head and two nonpolar tails. They are composed of one molecule of the long-chain amino alcohol sphingosine (4-sphingenine) or one of its derivatives, one molecule of a long-chain acid, a polar head alcohol and sometimes phosphoric acid in diester linkage at the polar head group. (Lehninger et al, Principles of Biochemistry, 2nd ed)11-beta-Hydroxysteroid Dehydrogenase Type 1: A low-affinity 11 beta-hydroxysteroid dehydrogenase found in a variety of tissues, most notably in LIVER; LUNG; ADIPOSE TISSUE; vascular tissue; OVARY; and the CENTRAL NERVOUS SYSTEM. The enzyme acts reversibly and can use either NAD or NADP as cofactors.Adipocytes, Brown: Fat cells with dark coloration due to the densely packed MITOCHONDRIA. They contain numerous small lipid droplets or vacuoles. Their stored lipids can be converted directly to energy as heat by the mitochondria.Insulin-Secreting Cells: A type of pancreatic cell representing about 50-80% of the islet cells. Beta cells secrete INSULIN.Leptin: A 16-kDa peptide hormone secreted from WHITE ADIPOCYTES. Leptin serves as a feedback signal from fat cells to the CENTRAL NERVOUS SYSTEM in regulation of food intake, energy balance, and fat storage.Mitochondrial Diseases: Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.Fetal Growth Retardation: The failure of a FETUS to attain its expected FETAL GROWTH at any GESTATIONAL AGE.Lipids: A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)Epigenesis, Genetic: A genetic process by which the adult organism is realized via mechanisms that lead to the restriction in the possible fates of cells, eventually leading to their differentiated state. Mechanisms involved cause heritable changes to cells without changes to DNA sequence such as DNA METHYLATION; HISTONE modification; DNA REPLICATION TIMING; NUCLEOSOME positioning; and heterochromatization which result in selective gene expression or repression.Obesity, Abdominal: A condition of having excess fat in the abdomen. Abdominal obesity is typically defined as waist circumferences of 40 inches or more in men and 35 inches or more in women. Abdominal obesity raises the risk of developing disorders, such as diabetes, hypertension and METABOLIC SYNDROME X.Molecular Targeted Therapy: Treatments with drugs which interact with or block synthesis of specific cellular components characteristic of the individual's disease in order to stop or interrupt the specific biochemical dysfunction involved in progression of the disease.Palmitates: Salts and esters of the 16-carbon saturated monocarboxylic acid--palmitic acid.Hypoglycemic Agents: Substances which lower blood glucose levels.Fasting: Abstaining from all food.Adipose Tissue, Brown: A thermogenic form of adipose tissue composed of BROWN ADIPOCYTES. It is found in newborns of many species including humans, and in hibernating mammals. Brown fat is richly vascularized, innervated, and densely packed with MITOCHONDRIA which can generate heat directly from the stored lipids.Mitochondrial Proteins: Proteins encoded by the mitochondrial genome or proteins encoded by the nuclear genome that are imported to and resident in the MITOCHONDRIA.Biological Markers: Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, environmental exposure and its effects, disease diagnosis, metabolic processes, substance abuse, pregnancy, cell line development, epidemiologic studies, etc.Adenylate Kinase: An enzyme that catalyzes the phosphorylation of AMP to ADP in the presence of ATP or inorganic triphosphate. EC 188.8.131.52.Glucose Intolerance: A pathological state in which BLOOD GLUCOSE level is less than approximately 140 mg/100 ml of PLASMA at fasting, and above approximately 200 mg/100 ml plasma at 30-, 60-, or 90-minute during a GLUCOSE TOLERANCE TEST. This condition is seen frequently in DIABETES MELLITUS, but also occurs with other diseases and MALNUTRITION.Anti-Obesity Agents: Agents that increase energy expenditure and weight loss by neural and chemical regulation. Beta-adrenergic agents and serotoninergic drugs have been experimentally used in patients with non-insulin dependent diabetes mellitus (NIDDM) to treat obesity.Hepatocytes: The main structural component of the LIVER. They are specialized EPITHELIAL CELLS that are organized into interconnected plates called lobules.Atherosclerosis: A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA.Gastrointestinal Tract: Generally refers to the digestive structures stretching from the MOUTH to ANUS, but does not include the accessory glandular organs (LIVER; BILIARY TRACT; PANCREAS).gamma-Glutamyltransferase: An enzyme, sometimes called GGT, with a key role in the synthesis and degradation of GLUTATHIONE; (GSH, a tripeptide that protects cells from many toxins). It catalyzes the transfer of the gamma-glutamyl moiety to an acceptor amino acid.Body Composition: The relative amounts of various components in the body, such as percentage of body fat.Hypothalamus: Ventral part of the DIENCEPHALON extending from the region of the OPTIC CHIASM to the caudal border of the MAMMILLARY BODIES and forming the inferior and lateral walls of the THIRD VENTRICLE.Orphan Nuclear Receptors: A broad category of receptor-like proteins that may play a role in transcriptional-regulation in the CELL NUCLEUS. Many of these proteins are similar in structure to known NUCLEAR RECEPTORS but appear to lack a functional ligand-binding domain, while in other cases the specific ligands have yet to be identified.Metabolome: The dynamic collection of metabolites which represent a cell's or organism's net metabolic response to current conditions.Cholesterol: The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils.PPAR alpha: A nuclear transcription factor. Heterodimerization with RETINOID X RECEPTOR GAMMA is important to metabolism of LIPIDS. It is the target of FIBRATES to control HYPERLIPIDEMIAS.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.Oxidation-Reduction: A chemical reaction in which an electron is transferred from one molecule to another. The electron-donating molecule is the reducing agent or reductant; the electron-accepting molecule is the oxidizing agent or oxidant. Reducing and oxidizing agents function as conjugate reductant-oxidant pairs or redox pairs (Lehninger, Principles of Biochemistry, 1982, p471).Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Liver Diseases: Pathological processes of the LIVER.Weight Gain: Increase in BODY WEIGHT over existing weight.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.Aging: The gradual irreversible changes in structure and function of an organism that occur as a result of the passage of time.Sterol Regulatory Element Binding Protein 1: A sterol regulatory element binding protein that regulates expression of GENES involved in FATTY ACIDS metabolism and LIPOGENESIS. Two major isoforms of the protein exist due to ALTERNATIVE SPLICING.Hyperglycemia: Abnormally high BLOOD GLUCOSE level.Hyperlipidemias: Conditions with excess LIPIDS in the blood.Anthropometry: The technique that deals with the measurement of the size, weight, and proportions of the human or other primate body.Bile Acids and Salts: Steroid acids and salts. The primary bile acids are derived from cholesterol in the liver and usually conjugated with glycine or taurine. The secondary bile acids are further modified by bacteria in the intestine. They play an important role in the digestion and absorption of fat. They have also been used pharmacologically, especially in the treatment of gallstones.Intestines: The section of the alimentary canal from the STOMACH to the ANAL CANAL. It includes the LARGE INTESTINE and SMALL INTESTINE.Models, Animal: Non-human animals, selected because of specific characteristics, for use in experimental research, teaching, or testing.Malnutrition: An imbalanced nutritional status resulted from insufficient intake of nutrients to meet normal physiological requirement.Mitochondria, Muscle: Mitochondria of skeletal and smooth muscle. It does not include myocardial mitochondria for which MITOCHONDRIA, HEART is available.Physical Conditioning, Animal: Diet modification and physical exercise to improve the ability of animals to perform physical activities.Oxidative Stress: A disturbance in the prooxidant-antioxidant balance in favor of the former, leading to potential damage. Indicators of oxidative stress include damaged DNA bases, protein oxidation products, and lipid peroxidation products (Sies, Oxidative Stress, 1991, pxv-xvi).Carbohydrate Metabolism: Cellular processes in biosynthesis (anabolism) and degradation (catabolism) of CARBOHYDRATES.
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Examples of lysosomal storage disorders include Gaucher's disease, Tay-Sachs disease, and Sandhoff disease. In a metabolic or ... Tay-Sachs disease. The disease occurs when harmful quantities of a fatty acid derivative called a ganglioside accumulate in the ... especially glycogen storage diseases and lysosomal storage disorders. In a storage disorder, a critical failure in a metabolic ... essentially curing the disease, could be on the horizon. Metabolic therapies under investigation for Late-Onset TSD include ...
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Niemann-Pick disease Gaucher's disease Hurler's syndrome Chronic liver ... disease Leukaemia Lymphoma Pernicious anaemia Sickle cell anaemia Thalassaemia Myelofibrosis Metabolic disease: ... National Niemann Pick Disease Foundation Hide and Seek Foundation For Lysosomal Disease Research. ... and histoplasmosis or it can be the sign of a serious and life-threatening lysosomal storage disease. Systemic venous ...
SLE Metabolic: Gaucher's disease, mucopolysaccharidoses, amyloidosis, Tangier disease Inflammatory: sarcoidosis Neoplastic: CML ... thyroid disease Metabolic: electrolyte imbalance, DKA, hypoglycaemia, SIADH Infective: sepsis, local infection Neoplastic: ... Diseases of Immunity 8. Neoplasia 9. Infectious Diseases 10. Environmental and Nutritional Pathology The surgical sieve is ... In the episode 'Paternity' the mnemonic 'MIDNIT' is used to run through the sieve (metabolic, inflammation, degenerative, ...
Gaucher's Disease is caused by an accumulation of glucosphingolipids in the body tissues and bone marrow. LPAs are a precursor ... an imbalance in the concentrations of lysophosphatidic acid phosphatase can frequently lead to several metabolic diseases. ... It is important to note that even though the increased activity of the enzyme has been found in patients with Gaucher's Disease ... Gaucher's Disease is another disorder in which lysophosphatidic acid phosphatase is found in irregular concentrations. ...
Other sphingolipidosis Gaucher's disease (ILDS E75.220) Niemann-Pick disease (ILDS E75.230) Farber's disease (ILDS E75.240) ... Glycogen storage disease type II (Pompe's disease) Glycogen storage disease type III Glycogen storage disease type IV Glycogen ... nutritional and metabolic diseases. The ICD-10 is a coding of diseases and signs, symptoms, abnormal findings, complaints, ... Nutritional and metabolic disorders in diseases classified elsewhere Autoimmune disease (systemic) NOS (M35.9) Certain ...
Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic diseases.[ ... Gaucher's disease E.g., Niemann-Pick disease Because of the enormous number of these diseases and wide range of systems ... Traditionally the inherited metabolic diseases were classified as disorders of carbohydrate metabolism, amino acid metabolism, ... Following are some of the major classes of congenital metabolic diseases, with prominent examples of each class. Many others do ...
... copy of the Gaucher disease gene, GBA. People with type I Gaucher have a defect in the enzyme called glucocerebrosidase (also ... in Niemann-Pick Type C Disease NDA 021-348/S-007 Prepared for the Endocrinologic and Metabolic Drugs Advisory Committee meeting ... Miglustat is used to treat adults with mild-to-moderate type I Gaucher disease for whom enzyme replacement therapy is ... Deegan, PB; Cox, TM (2012). "Imiglucerase in the treatment of Gaucher disease: a history and perspective". Drug Des Devel Ther ...
Niemann-Pick disease Gaucher disease Leukodystrophies Adrenoleukodystrophy Metachromatic leukodystrophy Krabbe disease (globoid ... Metabolic disorders Amyloidoses Amyloid light chain (AL) amyloidosis Environmentally-induced diseases Radiation poisoning Viral ... Hematologic diseases Hemoglobinopathies Sickle cell disease β thalassemia major (Cooley's anemia) Anemias Aplastic anemia ... I-cell disease) Fucosidosis Aspartylglucosaminuria Alpha-mannosidosis Other Wolman disease (acid lipase deficiency) ...
Lipidoses Gaucher's disease Niemann-Pick disease Sea-blue histiocyte syndrome (272.8) Other disorders of lipoid metabolism (273 ... Glycogenosis von Gierke's disease McArdle's disease Pompe's disease (271.1) Galactosemia (271.2) Hereditary fructose ... Autoimmune disease not elsewhere classified (279.5) Graft-versus-host disease (279.8) Other specified disorders involving the ... Diseases of thymus gland (255) Disorders of adrenal glands (255.0) Cushing's syndrome (256) Ovarian dysfunction (256.2) Ovarian ...
These include familial Alzheimer's disease, SCA17 (dominant inheritance); adrenoleukodystrophy (X-linked); Gaucher's disease ... metabolic causes such as liver failure or kidney failure; and chronic subdural hematoma. Chronic inflammatory conditions that ... Tay-Sachs disease, and Wilson's disease (all recessive). Wilson's disease is particularly important since cognition can improve ... For Lyme disease and neurosyphilis, testing should be done if there are risk factors for those diseases in the person. Because ...
Gaucher's disease, Bloom's syndrome, and Fanconi anemia, and mutations at BRCA1 and BRCA2. These mutations' effects cluster in ... only a few metabolic pathways, suggesting that they arise from selective pressure rather than genetic drift. One cluster of ... To take one example, the mutation responsible for Tay-Sachs disease arose in the 8th or 9th century, when the Ashkenazi Jewish ... At least one of the diseases in this cluster, torsion dystonia, has been found to correlate with high IQ. Another cluster ...
In the early 1990s, Mankin used replacement therapy for Gaucher's Disease. Robert Neer began researching parathyroid hormone ... A laboratory, metabolic kitchen, and patient recreation space were also added. In 1949, Ward IV was renamed "Mallinckrodt Ward ... During World War II, Ward IV was used mostly for metabolic studies of bone and wound healing through the Office of Scientific ... This has since become the most common treatment for the disease in the United States. In the 1950s, Alexander Leaf and Frederic ...
Cancer-related fatigue Combat stress reaction Fatigue (safety) Gaucher's disease Heat illness Malaise Microsleep Presenteeism ... such as a comprehensive metabolic panel. Other tests may be chosen depending on the patient's social history, such as an HIV ... Some major categories of diseases that feature fatigue include: Autoimmune diseases such as celiac disease, lupus, multiple ... Infectious diseases such as infectious mononucleosis. Irritable bowel syndrome Leukemia or lymphoma Liver failure Lyme disease ...
Examples include Gaucher disease, Fabry disease, Mucopolysaccharidoses and Glycogen storage disease type II. Such treatments ... Examples of metabolic disorders include galactosemia, glycogen storage disease, lysosomal storage disorders, metabolic acidosis ... Some diseases, such as many common cancers, appear not to be well described by the common disease/common variant model. Another ... In general, metabolic disorders arise from enzyme deficiencies that disrupt normal metabolic pathways. For instance, in the ...
... tay-sachs disease, ab variant MeSH C18.452.648.595.803.441 --- gaucher disease MeSH C18.452.648.595.803.585 --- leukodystrophy ... brain diseases, metabolic, inborn MeSH C18.452.100.100.050 --- abetalipoproteinemia MeSH C18.4184.108.40.206 --- carbamoyl- ... tay-sachs disease, ab variant MeSH C18.452.648.151.825.300.400 --- gangliosidosis gm1 MeSH C18.452.648.151.825.400 --- gaucher ... gaucher disease MeSH C18.4220.127.116.115.825.590 --- leukodystrophy, globoid cell MeSH C18.418.104.22.1685.825.594 --- ...
... tay-sachs disease, ab variant MeSH C16.320.565.580.803.441 --- gaucher disease MeSH C16.320.565.580.803.585 --- leukodystrophy ... brain diseases, metabolic, inborn MeSH C16.320.565.150.050 --- abetalipoproteinemia MeSH C16.320.565.150.162 --- carbamoyl- ... gaucher disease MeSH C16.320.565.150.435.825.590 --- leukodystrophy, globoid cell MeSH C16.320.565.150.435.825.594 --- ... gaucher disease MeSH C16.320.565.556.641.803.585 --- leukodystrophy, globoid cell MeSH C16.320.565.556.641.803.594 --- ...
... brain diseases, metabolic MeSH C10.228.140.163.100 --- brain diseases, metabolic, inborn MeSH C10.228.140.163.100.050 --- ... sandhoff disease MeSH C10.228.140.163.100.435.825.400 --- gaucher disease MeSH C10.228.140.163.100.435.825.590 --- ... lewy body disease MeSH C10.228.662.600.400 --- parkinson disease MeSH C10.228.662.600.700 --- parkinson disease, secondary MeSH ... lewy body disease MeSH C10.228.140.079.862.500 --- parkinson disease MeSH C10.228.140.079.862.800 --- parkinson disease, ...
Brady and his colleagues identified the enzymatic defects in Gaucher's disease, Niemann-Pick disease, Fabry disease ... and the specific metabolic abnormality in Tay-Sachs disease. He and his associates developed diagnostic, ... Roscoe Brady, Pioneer Scientist in Gaucher Disease, Dies at 92". Gaucher Disease News. 17 June 2016.. .mw-parser-output cite. ... Kampine JP, Brady RO, Kanfer JN, Feld M, Shapiro D. The diagnosis of Gaucher's disease and Niemann-Pick disease using small ...
The main members of this group are Niemann-Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay-Sachs disease and ... Genetics and Metabolic Disease. Medscape. Retrieved 2010-12-31. Mehta, A.; Ricci, R.; Widmer, U.; Dehout, F.; Garcia De Lorenzo ... Glycolipids Fabry's disease Krabbe disease Metachromatic leukodystrophy Glucocerebrosides Gaucher's disease Lipid storage ... Gaucher Disease at National Gaucher Foundation. Retrieved June 2012 GM2 Gangliosidoses - Introduction And Epidemiology at ...
The International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) is a coding of diseases and signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or diseases, as classified by the World Health Organization (WHO). This page contains ICD-10 Chapter IV: Endocrine, nutritional and metabolic diseases. This is an overview about the chapter IV (also called chapter E) of the International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10). This chapter is about Endocrine, nutritional and metabolic diseases. The ICD-10 is a coding of diseases and signs, symptoms, abnormal findings, complaints, social circumstances and ...
... s can be present at birth, and many can be identified by routine screening. If a metabolic disorder is not identified early, then it may be diagnosed later in life, when symptoms appear. Specific blood and DNA tests can be done to diagnose genetic metabolic disorders.. The gut microbiota, which is a population of microorganisms that live in the human digestive system, also has an important part in metabolism and generally has a positive function for its host. In terms of pathophysiological/mechanism interactions, an abnormal gut microbioma can play a role in metabolic disorder related obesity.. ...
... (born June 24, 1962) is a Turkish-American physician scientist; James Stevens Simmons Professor of Genetics and Metabolism; chair of the Department of Genetics and Complex Diseases at Harvard T.H. Chan School of Public Health (HSPH); director of the Sabri Ülker Center for Metabolic Research and associate member of Harvard-MIT Broad Institute, Harvard Stem Cell Institute and the Joslin Diabetes Center. Hotamisligil has been a pioneer in research efforts to explain the mechanistic basis of common chronic metabolic diseases; particularly obesity, diabetes, fatty liver disease, and atherosclerosis. His work has led to the emergence of novel concepts that have altered the understanding of metabolic disease pathogenesis. Gökhan Hotamisligil was born in Rize, Turkey and after attending elementary schools in Vakfikebir, ...
... (MMA), also called methylmalonic aciduria, is an autosomal recessive metabolic disorder. It is a classical type of organic acidemia. The result of this condition is the inability to properly digest specific fats and proteins, which in turn leads to a buildup of a toxic level of methylmalonic acid in the blood. Methylmalonic acidemia stems from several genotypes, all forms of the disorder usually diagnosed in the early neonatal period, presenting progressive encephalopathy, and secondary hyperammonemia. The disorder can result in death if undiagnosed or left untreated. It is estimated that this disorder has a frequency of 1 in 48,000 births, though the high mortality rate in diagnosed cases make exact determination difficult. Methylmalonic acidemias are found with an equal frequency across ethnic boundaries. Depending on the affected gene(s), this disorder may present symptoms that range from mild to life-threatening. Stroke Progressive encephalopathy Seizure Kidney failure ...
... s (LSDs; /ˌlaɪsəˈsoʊməl/) are a group of about 50 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling. This process requires several critical enzymes. If one of these enzymes is defective, because of a mutation, the large molecules accumulate within the cell, eventually killing it. Lysosomal storage disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins (sugar-containing proteins), or so-called mucopolysaccharides. Individually, LSDs occur with incidences of less than 1:100,000; however, as a group, the incidence is about 1:5,000 - 1:10,000. Most of these disorders are autosomal recessively inherited such as Niemann-Pick disease, type C, but a few are X-linked recessively inherited, such ...
... (TMAO) is the organic compound in the class of amine oxides with the formula (CH3)3NO. This colorless solid compound is usually encountered as the dihydrate. It is a product of the oxidation of trimethylamine, a common metabolite in animals. Trimethylamine N-oxide is an osmolyte found in saltwater fish, sharks, rays, molluscs, and crustaceans. It is considered as a protein stabilizer that may serve to counteract urea, the major osmolyte of sharks, skates and rays. It is also higher in deep-sea fishes and crustaceans, where it may counteract the protein-destabilizing effects of pressure. TMAO decomposes to trimethylamine (TMA), which is the main odorant that is characteristic of degrading seafood. TMAO can be synthesized from trimethylamine by treatment with hydrogen peroxide: H2O2 + (CH3)3N → H2O + (CH3)3NO TMAO is biosynthesized from trimethylamine, which is derived from choline. Trimethylaminuria is a rare defect in the production of the enzyme flavin containing ...
A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defective. Congenital disorders of glycosylation are sometimes known as CDG syndromes. They often cause serious, sometimes fatal, malfunction of several different organ systems (especially the nervous system, muscles, and intestines) in affected infants. The most common subtype is CDG-Ia (also referred to as PMM2-CDG) where the genetic defect leads to the loss of phosphomannomutase 2, the enzyme responsible for the conversion of mannose-6-phosphate into mannose-1-phosphate. Historically, CDGs are classified as Types I and II (CDG-I and CDG-II), depending on the nature and location of the biochemical defect in the metabolic pathway relative to the action of oligosaccharyltransferase. The most commonly used screening method for CDG, analysis of transferrin ...
... s can be present at birth, and many can be identified by routine screening. If a metabolic disorder is not identified early, then it may be diagnosed later in life, when symptoms appear. Specific blood and DNA tests can be done to diagnose genetic metabolic disorders.. The gut microbiota, which is a population of microorganisms that live in the human digestive system, also has an important part in metabolism and generally has a positive function for its host. In terms of pathophysiological/mechanism interactions, an abnormal gut microbioma can play a role in metabolic disorder related obesity.. ...
Ebolas vīrusslimība (EVS) jeb Ebolas hemorāģiskais drudzis (EHD) ir cilvēku slimība, ko izraisa Ebolas vīruss. Simptomi parasti sākas divas dienas līdz trīs nedēļas pēc inficēšanās ar vīrusu ar drudzi, kakla sāpēm, muskuļu sāpēm un galvassāpēm. Parasti seko slikta dūša, vemšana un caureja kopā ar aknu un nieru bojājumiem. Šajā posmā dažiem cilvēkiem sākas problēmas ar asiņošanu. Inficēšanās ar vīrusu iespējama kontakta ceļā ar asinīm vai citiem ķermeņa šķidrumiem no inficētiem dzīvniekiem (parasti pērtiķiem vai augļēdājsikspārņiem). Izplatība pa gaisu dabiskā vidē nav dokumentēta. Uzskata, ka augļēdājsikspārņi nēsā un izplata vīrusu, bet paši neinficējas. Tad, kad ir notikusi cilvēku inficēšanās, slimība var izplatīties arī no cilvēka uz cilvēku. Pēc izveseļošanās vīrieši var pārnest slimību ar spermu līdz gandrīz diviem mēnešiem. Lai noteiktu diagnozi, parasti vispirms ...
Somaiņiem salīdzinot ar citiem zīdītājiem ir ļoti īss grūsnības periods. Tas ir apmēram 4 - 5 nedēļas. Mazuļi piedzimst ļoti mazi un neattīstīti (dīgļa stadijā). Tie ir akli, bez matojuma, ļoti maziņi. Augumā tos var salīdzināt ar pupiņu. Pēc piedzimšanas mazulis, pieķeroties pie mātes kažoka matojuma, pārrāpo uz somu, kur sameklē piena dziedzeri un pie tā pieķeras. Vairākus mēnešus mazais embrijam līdzīgais mazulis zīž tikai pienu un turpina attīstīties līdz kļūst spējīgs izkāpt no somas un sākt mācīties baroties līdzīgi pieaugušajiem. Tomēr mazulis briesmu gadījumos un nakts laikā atgriežas mātes somā. Mazulis somā dzīvo apmēram gadu vai līdz nākamā mazuļa piedzimšanai. Mazulis pirmajos mēnešos, kamēra tam nav izveidojies apmatojums, nav spējīgs regulēt savu ķermeņa temperatūru un ir atkarīgs no mātes siltuma. Somā ir vienmērīga temperatūra (30 - 32 °C). Somaiņiem atšķirībā no placentāļiem ir ļoti ...
Diagnozes apstiprinošas metodes izvēle ir atkarīga no slimības ilguma kopš sākušās klepus lēkmes, pacienta vecuma un laika pēc pēdējās vakcinācijas vai revakcinācijas. B. pertussis izolēšana no klīniskā parauga tiek uzskatīta par diagnostikas zelta standartu (pamatojoties uz metodes augsto specifiskumu). B. pertussis nukleīnskābju (DNS) noteikšanas metode ar polimerāzes ķēdes reakciju (PĶR). Šai metodei ir augsts specifiskums un augsta jutība. Abas minētās metodes ir neaizvietojamas gadījumos, kad seroloģiskie testi var būt nepārliecinoši un grūti interpretējami, - jaundzimušajiem, zīdaiņiem līdz 12 mēnešu vecumam un nesen vakcinētiem vai revakcinētiem bērniem, pusaudžiem vai pieaugušajiem (ja pēc vakcinācijas ir pagājuši mazāk nekā 12 mēneši). Abas metodes ir kvalitatīvas, un rezultāts interpretējams kā pozitīvs vai negatīvs. B. pertussis specifisko IgG-anti-PT noteikšana (IgG klases antivielas pret B. pertussis toksīnu). ...
Hormonālā kontracepcija ir pretapaugļošanās metode, kuru izmanto sievietes reproduktīvā vecumā, lai izvairītos no nevēlamas grūtniecības. Šo efektu panāk, ar hormonu preparātiem iedarbojoties uz endokrīno sistēmu. Gandrīz visas metodes balstās uz steroīdu hormonu saturošiem līdzekļiem. Pirmā oriģinālā hormonālās kontracepcijas metode - kombinētās orālās kontraceptīvās tabletes - parādījās 1960. gadā. Vēlāk tika izveidotas arī citas metodes, kā aktīvās vielas nogādāt ķermenī, piemēram, ar injekcijām, plāksteriem un spirālēm, lai gan mūsdienās orālās un injekciju metodes vēl aizvien ir populārākās. Kopumā pasaulē no visiem lietotajiem kontracepcijas veidiem hormonālā kontracepcija sastāda ap 18%. Hormonālā kontracepcija ir ļoti efektīva - gada laikā grūtniecības iespējamība ir mazāka par 1%. Precīza lietošana šo iespējamību var samazināt pat līdz 0,3%. Pagaidām hormonālie kontraceptīvie līdzekļi ir ...
1999. gadā, salīdzinot sešus plašus Rietumu valstīs veiktus pētījumus, tika konstatēts, ka mirstības rādītāji viszemākie ir zivju ēdājiem (koeficients 0,82), tiem sekoja veģetārieši (0,84) un tie, kas gaļu ēd retumis, un visbeidzot - regulāri gaļas ēdāji (1,00) un vegāni (1,00). Kad pētījumā tika iegūti precīzākie rezultāti (ņemot vērā, ka sākotnējos rezultātus ietekmēja arī tādi ar veģetārismu tieši nesaistīti faktori kā, piemēram, dzimums, vecums, alkohola lietošana, smēķēšana u.c.), mirstības koeficients veģetāriešu vidū bija 0,94. Rakstā "Britu veģetāriešu mirstība" norādīts, ka "britu veģetāriešiem ir zema mirstība, salīdzinot ar citām sabiedrības grupām. Pētījumā ņemot vērā tikai atšķirības gaļas ēšanā/neēšanā, viņu mirstības koeficients ir līdzīgs, kā neveģetāriešiem, kas vedina domāt, ka šī priekšrocība izskaidrojama ar citiem, uzturu nesaistītiem faktoriem, kā zems ...
Gaucher disease is a member of the group of inherited metabolic disorders known as sphigolipidoses. ... Gaucher disease is a typical lysosomal storage disorder resulting from an inborn deficiency of glucocerebrosidase. This leads ... Cox TM: Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses. J Inherit Metab Dis. 2001;24 Suppl 2:106 ... J F Neil, R H Glew, S P Peters: Familial psychosis and diverse neurologic abnormalities in adult-onset Gauchers disease. Arch ...
For people with Gauchers disease, the oral medication miglustat has been approved. In some people with type 1 disease, this ... Some people that have type 1 Gauchers disease have very mild symptoms and dont need any treatment at all. Type 2 Gauchers ... People who have developed Gauchers disease in adulthood and people with mild cases of the disease have close to normal life ... width="10" height="8" />Diseases List " width="10" height="8" />Gauchers disease ...
Brain Diseases, Metabolic, Inborn. Brain Diseases, Metabolic. Brain Diseases. Central Nervous System Diseases. Nervous System ... Genetic Diseases, Inborn. Lipidoses. Lipid Metabolism, Inborn Errors. Lysosomal Storage Diseases. Metabolic Diseases. Lipid ... Gaucher Disease. Sphingolipidoses. Lysosomal Storage Diseases, Nervous System. ... Expanded Access Trial of Plant Expressed Recombinant Glucocerebrosidase (prGCD) in Patients With Gaucher Disease. The safety ...
Brain Diseases, Metabolic, Inborn. Brain Diseases, Metabolic. Brain Diseases. Central Nervous System Diseases. Nervous System ... Genetic Diseases, Inborn. Lipidoses. Lipid Metabolism, Inborn Errors. Lysosomal Storage Diseases. Metabolic Diseases. Lipid ... Gaucher Disease. Sphingolipidoses. Lysosomal Storage Diseases, Nervous System. ... Gaucher Disease Drug: Taliglucerase alfa Phase 3 Access to an investigational treatment associated with this study is no longer ...
Brain Diseases, Metabolic, Inborn. Brain Diseases, Metabolic. Brain Diseases. Central Nervous System Diseases. Nervous System ... Gaucher Disease Genetic and Rare Diseases Information Center resources: Gaucher Disease Gaucher Disease Type 1 Sphingolipidosis ... Genetic Diseases, Inborn. Lipidoses. Lipid Metabolism, Inborn Errors. Lysosomal Storage Diseases. Metabolic Diseases. Lipid ... Gaucher Disease. Sphingolipidoses. Lysosomal Storage Diseases, Nervous System. ...
Brain Diseases, Metabolic, Inborn. Brain Diseases, Metabolic. Brain Diseases. Central Nervous System Diseases. Nervous System ... Genetic and Rare Diseases Information Center resources: Gaucher Disease Gaucher Disease Type 1 Sphingolipidosis ... Genetic Diseases, Inborn. Lipidoses. Lipid Metabolism, Inborn Errors. Lysosomal Storage Diseases. Metabolic Diseases. Lipid ... Gaucher disease is a lysosomal storage disease resulting from glycocerebroside accumulation in macrophages due to a genetic ...
Gaucher disease, rare inherited metabolic disorder characterized by anemia, mental and neurologic impairment, yellowish ... Gaucher disease was initially described in 1882 by French ... Gaucher disease. disease. Written By: *The Editors of ... Gaucher disease was initially described in 1882 by French physician Philippe Charles Ernest Gaucher. Gaucher disease is ... metabolic disease: Lysosomal storage disorders. , Gaucher disease type I) usually affect only peripheral tissues such as the ...
"Gaucher Disease." The Online Metabolic and Molecular Bases of Inherited Disease Valle D, Beaudet AL, Vogelstein B, Kinzler KW, ... Gaucher disease has its highest prevalence/frequency in the Ashkenazi Jewish population, in which Gaucher disease-causing ... Most of the ,300 disease alleles in Gaucher disease are missense mutations that lead to acid β-glucosidases with decreased ... Grabowski G.A., Petsko G.A., Kolodny E.H. Grabowski, Gregory A., et al.Gaucher Disease. In: Valle D, Beaudet AL, Vogelstein B, ...
Complex mechanisms in Gaucher disease unravelled. March 30, 2017 Gaucher disease is a genetic disorder of lipid metabolism. ... New biomarker found for group of rare metabolic diseases. August 7, 2017 A newly discovered biomarker associated with a rare ... Due to this metabolic dysfunction, the breakdown also of other substances such as lipids and proteins gradually comes to a ... Epstein-Barr virus linked to seven serious diseases. April 16, 2018 A far-reaching study conducted by scientists at Cincinnati ...
Our metabolic disorders resource center offers news and MPRs drug monographs offer prescribing information on inborn ... Updated Contraindications, Dosing for Gaucher Disease Treatment Cerdelga By Diana Ernst, RPh September 04, 2018 ... Galafold Approved for the Treatment of Adults With Fabry Disease By Da Hee Han, PharmD August 13, 2018 ... Metabolic Disorders Resource Center. Drug Monographs. Click on the subsection below to see prescribing information ...
Mens Health Metabolic syndrome Mixed connective tissue disease, Menieres disease Metatarsalgia Molar pregnancy, Meningioma ... Gauchers disease Glomerulonephritis Guillain-Barre syndrome, Generalized anxiety disorder Goiter Gynecomastia (enlarged ... syndrome We will address in this site diseases AZ kinds of diseases rankings diseases incurable diseases treatment of diseases ... Infectious diseases Interstitial lung disease Itchy skin (pruritus) Jellyfish stings Jock itch Kawasaki disease Kidney cysts ...
TAY-SACHS DISEASE (TSD). *SANDHOFF DISEASE. *GAUCHER DISEASE. *NIEMANN-PICK DISEASE (NPD) ... Metabolic diseases. Other forms of dementia. Metabolic diseases are a group of often treatable diseases which may lead to ... June 2010: "Alzheimers disease and dementia as a national priority: contrasting approaches by France and the UK" ... February 2018 The prevention of Alzheimers disease (AD) and dementia. * December 2017 Improving the diagnosis of ...
TAY-SACHS DISEASE (TSD). *SANDHOFF DISEASE. *GAUCHER DISEASE. *NIEMANN-PICK DISEASE (NPD) ... Metabolic diseases. Other forms of dementia. Metabolic diseases are a group of often treatable diseases which may lead to ... June 2010: "Alzheimers disease and dementia as a national priority: contrasting approaches by France and the UK" ... 2016: Ethical issues linked to the changing definitions/use of terms related to Alzheimers disease *Foreword ...
Gaucher disease (GD) is one of the most prevalent inherited metabolic storage disorders of humans. GD results from mutations in ... Gaucher disease (GD), one of the most prevalent human metabolic storage disorders, is caused by inadequate glucocerebrosidase ( ... 2013) An innovative approach to the treatment of Gaucher disease and possibly other metabolic disorders of the brain. J Inherit ... Celastrol in Gaucher disease. Chunzhang Yang, Cody L. Swallows, Chao Zhang, Jie Lu, Hongbin Xiao, Roscoe O. Brady, Zhengping ...
Lysosomal Storage Disease , Biomarker for Gaucher Disease: BioGaucher (BioGaucher) ... Clinical trial for Gaucher Disease , Hepatomegaly , Splenomegaly , Sphingolipidosis , ... This is a metabolic product likely to be involved in the pathophysiology of the disease. Therefore it is the goal of the study ... Gaucher disease (GD) is an autosomal recessive hereditary lysosomal storage disorder. Occurrence of the disease is due to a ...
Nguyen on is hemophilia a terminal disease: The HIV epidemic affected many hemophiliacs but those that survived through that ... time and those diagnosed after the HIV epidemic was fully realized have an opportunity to have their disease effectively ... Is gauchers disease an example of a metabolic disorder? Dr. James Ferguson Dr. Ferguson ... Parkinsons disease: No. Parkinsons disease is not a communicable or transmissible disease. ...Read more ...
In Gaucher disease, the effect of treatment on pulmonary disease depends on the case series and the type of Gaucher disease. In ... Gaucher disease. Gaucher disease is caused by a deficiency of glucocerebrosidase (β-glucosidase) activity . The hallmark of ... Disease-specific therapy. In the past, the management of several inherited metabolic diseases was limited to support therapy of ... Pulmonary involvement in Gaucher disease is multifaceted and due to several mechanisms. Gaucher cells can fill the alveolar ...
Lysosomal storage diseases (LSD) are a group of rare disorders caused by mutations of genes encoding specific hydrolases or ... Lysosomal storage diseases (LSD) are a group of rare disorders caused by mutations of genes encoding specific hydrolases or ... The alteration of ncRNA levels is well established in several human diseases such as cancer and auto immune disorders; however ... The alteration of ncRNA levels is well established in several human diseases such as cancer and auto immune disorders; however ...
Degenerative diseases (such as Parkinsons disease and Alzheimers disease). *Metabolic diseases (such as Gauchers disease) ... Alzheimers Disease Arthritis Autism Back Pain COPD Depression Diabetes Complications Food Allergies Heart Disease Psoriasis ... Many neurological diseases, such as dementia, cause changes in intellectual status or emotional responsiveness, and specific ... and helps localize central nervous system dysfunction and aids in diagnosing systemic disease. Some of the functions that are ...
Gaucher disease is a lipid storage disease characterized by the deposition of glucocerebroside in cells of the macrophage- ... The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York. 2001. 3635-68. ... encoded search term (Gaucher Disease) and Gaucher Disease What to Read Next on Medscape. Related Conditions and Diseases. * ... All forms of Gaucher disease are panethnic. Type 1 Gaucher disease is the most common lysosomal storage disease and is the most ...
Metabolic diseases. *Niemann-Pick disease, a severe metabolic disorder involving fat accumulation in cells ... Gauchers disease, a genetic condition that causes fat accumulation in different organs and cells ... Alcohol-Related Liver Disease. Damage to the liver from excessive drinking can lead to ARLD. Years of alcohol abuse cause the ... leishmaniasis, a disease caused by the parasite Leishmania and spread through the bite of a sand fly ...
Grand View Research has segmented the global metabolic disorder therapeutics market on the basis of disease, therapy type, ... Researchers estimate that the prevalence of metabolic diseases like obesity and diabetes is expected to double in the coming 2 ... therapy due to its high reliability proven success and availability of various types of drugs to treat metabolic diseases ... Read 145 page research report with TOC on "Metabolic Disorder Therapeutics Market Size, Share & Trends Analysis Report By Route ...
E. Beutler, G.A. Grabowski, The metabolic and molecular basis of inherited disease. Gaucher disease (McGraw-Hill, New York, ... Gauchers disease (GD) is the most common of the lysosomal storage disorders (LSDs) caused by the deficiency of β- ... Type I Gauchers disease (non-neuronopathic) is the most popular form. Patients can experience hepatosplenomegaly, anemia, ... Finally, patients with the third type of Gauchers disease (Type III-subacute neuronopathic) show broad spectrum of clinical ...
... therapeutic alternatives and different approaches to gene transfer in lysosomal storage diseases are important for the ... 1989) Molecular pathology and therapy of Gaucher disease. Japanese Journal of Inherited Metabolic Disease 51: 45-71. ... Sidransky E, Sherer DM and Ginns EI (1992) Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse ... Journal of Inherited Metabolic Diseases 24(2): 245-250. Xu L, Gao C, Sands MS, et al. (2003) Neonatal or hepatocyte growth ...
Metabolic disorders like Gauchers disease. *Krabbes disease. *Immunodeficiency states-SCID. *leukocyte adhesion deficiency ... After collecting adequate stem cells, patient is given high doses of chemotherapy which kills the disease. ...
EnzymeFabryInherited metabolic disorderLysosomal StorageImigluceraseForm of Gaucher diseaseDeficiencyBone2018MucopolysaccharidosisMacrophagesClinical manifestations of Gaucher diseaseInbornDisorder characterizedAcuteCysticAbstractActivity in Gaucher diseasePeople with Gaucher diseaseDiagnosis of Gaucher diseaseComplications of Gaucher diseaseSpleenGlucosylceramideGlycogenSplenomegalyNeuronopathic formsType 3 GaucherSevereGene therapyEndocrineHemochromatosisOccursNeurologicalProgression2019CellsNeurodegenerative diseasesMutationHereditaryGenesAccumulationPulmonary
- A European consensus on the management of Gaucher disease recommended enzyme replacement therapy with macrophage-targeted recombinant human glucocerebrosidase and found that it ameliorates systemic involvement and enhanced quality of life. (alzheimer-europe.org)
- A deficiency of the enzyme glucocerebrosidase is the cause of Gaucher's disease, which is also called glucocerebrosidase deficiency. (epharmapedia.com)
- Enzyme replacement and other therapies are some of the treatments for Gaucher's disease. (epharmapedia.com)
- A deficit of the enzyme glucocerebrosidase is the cause of Gaucher's disease. (epharmapedia.com)
- This is an open-label expanded access trial of prGCD in patients with Gaucher disease who require enzyme replacement therapy (ERT) and who have been treated with imiglucerase but for whom the dose has been reduced or discontinued due to shortage of the product. (clinicaltrials.gov)
- Gaucher disease, the most prevalent lysosomal storage disorder, is caused by mutations in the human glucocerebrosidase gene (GCD), which have been mapped to chromosome 1 q21-q31, leading to reduced activity of the lysosomal enzyme glucocerebrosidase and thereby to the accumulation of substrate glucocerebroside (GlcCer) in the cells of the monocyte-macrophage system. (clinicaltrials.gov)
- prGCD is a plant cell expressed recombinant glucocerebrosidase enzyme for the treatment of Gaucher disease. (clinicaltrials.gov)
- prGCD safety will be observed in this treatment protocol of patients with non-neuronopathic Gaucher disease who require enzyme replacement therapy. (clinicaltrials.gov)
- The purpose of this study is to examine how the skeleton responds to repeated doses of enzyme replacement therapy in patients with type I Gaucher's disease who have had their spleens removed. (clinicaltrials.gov)
- Gaucher disease is a lysosomal storage disease resulting from glycocerebroside accumulation in macrophages due to a genetic deficiency of the enzyme glucocerebrosidase. (clinicaltrials.gov)
- These mutations result in defects in the synthesis of an enzyme called glucocerebrosidase , leading to the accumulation of lipids called glucocerebrosides in Gaucher cells. (britannica.com)
- Type 1 Gaucher disease may be treated by enzyme replacement therapy in which injections of imiglucerase, a synthetic analog of glucocerebrosidase that is made using recombinant DNA technology , are administered on a weekly or biweekly basis. (britannica.com)
- Enzyme replacement therapy is generally ineffective in treating type 2 and type 3 Gaucher disease, because the molecules of imiglucerase are large and therefore cannot cross the blood-brain barrier to enter the central nervous system to treat neurological symptoms. (britannica.com)
- Treatments that may be considered for patients with type 2 or type 3 Gaucher disease, or when enzyme replacement therapy is not an option for patients with type 1, include splenectomy (removal of the spleen), blood transfusion , and bone marrow transplantation . (britannica.com)
- The quality of life of patients with Gaucher disease can be greatly improved by comprehensive, personalized therapy that includes medical and surgical interventions and, in sufficiently affected patients, enzyme and/or substrate reduction therapies. (mhmedical.com)
- Occurrence of the disease is due to a hereditary deficiency of the Glucocerebrosidase, a lysosomal enzyme which divides Glucocerebroside into Glucose and Ceramides. (centerwatch.com)
- Current treatments for several inherited metabolic diseases (including enzyme replacement therapy, substrate reduction, bone marrow transplantation, or even more innovative strategies such as pharmacological chaperone or gene therapies) may provide significant benefits for associated respiratory disease. (ersjournals.com)
- Enzyme replacement therapy (ERT) is indicated for patients with type 1 and type 3 Gaucher disease who exhibit clinical signs and symptoms of the disease, including anemia, thrombocytopenia, skeletal disease, or visceromegaly. (medscape.com)
- Zavesca (miglustat): is currently the only approved oral treatment for patients with mild to moderate type 1 Gaucher disease for whom enzyme replacement therapy is unsuitable. (wikipedia.org)
- Alglucerase injection is an enzyme, prescribed for type I Gaucher disease, an inherited metabolic disorder. (medindia.net)
- It belongs to a group of diseases called glycolipid storage diseases and is due to the lack of an enzyme called glucocerebrosidase. (medindia.net)
- Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme glucocerebrosidase (GCB). (bioportfolio.com)
- Gaucher disease is the most common lysosomal storage disorder due to glucosylceramidase enzyme deficiency. (bioportfolio.com)
- Children's Health Special Procedures Clinic nurses provide weekly or biweekly enzyme replacement with oversight of the metabolic physicians. (childrens.com)
- A rare hereditary metabolic disease due to an enzyme defect that interferes with the proper function of cell LYSOSOMES . (thefreedictionary.com)
- are carriers of 1 or more mutations that cause the different types of Gaucher Disease (GD) or, less commonly, if mom has GD, Chorionic Villous Sampling or Amniocentesis for DNA mutations & enzyme analysis for GD is warranted. (healthtap.com)
- All people with Gaucher disease have a deficiency of the GBA enzyme, which is involved in the breakdown and recycling of glucocerebroside. (genome.gov)
- In 2004, the European Commission licensed enzyme replacement therapy for the treatment of Type 3 Gaucher disease although prior to the license, patients were already receiving enzyme therapy off-label due to the dramatic improvement of their visceral disease. (gaucher.org.uk)
- Although enzyme replacement therapy has improved the life expectancy and quality of life for many patients, there is no evidence that it crosses the blood brain barrier and the neurological aspects of this disease are being increasingly seen. (gaucher.org.uk)
- Many patients with type 3 Gaucher disease receive enzyme replacement therapy in high doses and one infusion can take many hours. (gaucher.org.uk)
- In 1998 at the 3rd European Working Group for Gaucher Disease, the UK patient representative for neuronopathic Gaucher disease made a plea to develop a consensus paper for Europe on the management of Neuronopathic Gaucher disease as treatment varied considerably in different countries in terms of dosage of enzyme replacement therapy and clinical management. (gaucher.org.uk)
- It has been known for a while that the majority of patients with Gaucher disease carry mutations in a gene encoding for an enzyme called GBA1, which is responsible for the breakdown of a lipid called glucosylceramide. (asbmb.org)
- Classically, lysosomal storage diseases encompassed only enzyme deficiencies of the lysosomal hydrolases. (medscape.com)
- Enzyme replacement therapy (ERT) appears safe and effective for peripheral manifestations in patients with Gaucher disease types I and III, Fabry disease, mucopolysaccharidosis I (Hurler, Hurler-Scheie, and Scheie syndromes), mucopolysaccharidosis II (Hunter syndrome), mucopolysaccharidosis VI (Maroteaux-Lamy syndrome), Pompe disease, and recently Batten disease (neuronal ceroid lipofuscinoses, CLN2). (medscape.com)
- This has led to active clinical trials evaluating the safety and efficacy of intrathecal enzyme delivery in several lysosomal storage diseases (see www.ClinicalTrials.gov ). (medscape.com)
- Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease. (nih.gov)
- To evaluate the efficacy and safety of miglustat, concomitant with enzyme replacement therapy (ERT), in patients with Gaucher's disease type 3 (GD3). (nih.gov)
- Gaucher disease is an irreversible, inherited genetic metabolic disorder that results from not having enough glucocerebrosidase (GCase) - an enzyme that breaks down fatty chemicals called glucocerebrosides (GBA). (ucl.ac.uk)
- Mutations in the GBA gene, which encodes the GCase enzyme that is deficient in Gaucher disease, are also a risk factor for Parkinson's disease. (ucl.ac.uk)
- We found that the mice who received an injection of adeno-associated virus (AAV) vector were more able to break down fatty chemicals and re-express the gene encoding an enzyme that is deficient in Gaucher disease," said Dr Simon Waddingdon (UCL Institute for Women's Health). (ucl.ac.uk)
- Over 30 different lysosomal storage diseases, each associated with deficiency of a specific lysosomal enzyme, have been described in man (Gieselmann 1995). (springer.com)
- Although the incidence of individual enzyme deficiency is rare, lysosomal storage diseases collectively occur in 1 in∼10,000 births. (springer.com)
- An alternative treatment available to a subtype of one form of lysosomal storage disease is enzyme replacement. (springer.com)
- For the non-neuropathic form of Gaucher's disease, administration of glucocerebrosidase, the deficient enzyme in question, has resulted in definite clinical imrovements. (springer.com)
- 100,000) or enzyme replacement treatment, more cost-effective therapies for the lysosomal storage diseases need to be developed. (springer.com)
- Enzyme therapy in genetic diseases. (springer.com)
- Gaucher disease is basically defined as an inherited metabolic disorder (caused due to defective gene for the enzyme glucocerebrosidase from both parents) that leads to the accumulation of a particular fatty substance through out the body. (pharmainfo.net)
- Type 1 Gaucher disease is treated with regular injections of the missing enzyme, but the more damaging type 2 is currently untreatable, because the brain's protective barrier prevents the enzyme from entering. (bionews.org.uk)
- Gaucher disease (GD) [ 1 ] is a recessively inherited lysosomal storage disorder caused by deficiency of a lysosomal enzyme, glucocerebrosidase (EC 22.214.171.124), which leads to insufficient clearance of the enzyme's substrate, cellular glucosylceramide. (biomedcentral.com)
- From these observations, Garrod derived the remarkable conclusion that these individuals suffered from an inherited deficiency of an enzyme required to catalyze a specific metabolic step in each of these diseasesr2! (docme.ru)
- The aim of this study is to evaluate the long-term effect of miglustat (substrate reduction therapy) as first-line treatment in mild to moderate Gaucher Disease (GD) and its effectiveness as maintenance therapy either in patients with type I GD who have achieved a stable condition with enzyme replacement therapy or in patients with severe disease who have not reached the objectives of the treatment. (isrctn.com)
- 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)
- Glycogen Storage Disease Type 1 is a genetic disorder resulting from deficiency of the enzyme glucose-6-phosphatase. (rareshare.org)
- To date, more than 50 LSD have been described, all of them inherited as autosomal recessive, with the exception of Danon disease, Fabry disease, and mucopolysaccharidosis type II, which are X-linked ( 2 , 3 ). (frontiersin.org)
- We see patients with a range of LSDs including Fabry disease, Pompe disease, Gaucher disease, Niemann-Pick diseases, mucolipidoses and the mucopolysaccharidoses. (uclh.nhs.uk)
- Gaucher disease , rare inherited metabolic disorder characterized by anemia , mental and neurologic impairment, yellowish pigmentation of the skin, enlargement of the spleen , and bone deterioration resulting in pathological fractures. (britannica.com)
- Mutations in the GBA gene had previously been identified as the cause of Gaucher disease, a rare, inherited metabolic disorder. (genome.gov)
- Her husband died when she was in her 30s, and she lost her other three children at infancy to Gaucher's disease, an inherited metabolic disorder. (latimes.com)
- An example is a study on the molecular mechanism behind the association between Gaucher disease, a rare inherited metabolic disorder and Parkinson's disease, a long-term degenerative disorder of the central nervous system that mainly affects the motor system. (gulf-times.com)
- Lysosomal storage diseases (LSD) are a group of inherited diseases due to deficiency of lysosomal proteins such as hydrolases, membrane proteins, and lysosomal accessory proteins, which causes blockage in specific lysosomal catabolic pathways and storage of undegraded substrates. (frontiersin.org)
- History, therapeutic alternatives and different approaches to gene transfer in lysosomal storage diseases are important for the understanding of this group of inborn errors of metabolism. (els.net)
- More than 50 lysosomal storage diseases have been described, some of which are discussed in this article. (medscape.com)
- Thus far, ERT has been largely unsuccessful in improving central nervous system manifestations of the lysosomal storage diseases, putatively due to difficulty in penetrating the blood-brain barrier. (medscape.com)
- The availability of both ERT and hematopoietic stem cell transplantation has prompted ongoing consideration of newborn screening efforts to diagnose lysosomal storage diseases. (medscape.com)
- Since the genes for many lysosomal enzymes have been cloned, somatic gene therapy for lysosomal storage diseases may offer the ultimate solution to this serious healthcare problem (Beutler 1993). (springer.com)
- 18 years old) with symptoms and clinical manifestations of Gaucher disease who completed treatment in Protocols PB-06-002 (switchover study from imiglucerase) or PB-06-005 (naïve treatment with taliglucerase alfa). (clinicaltrials.gov)
- Adults with type 1 Gaucher disease that cannot be treated with imiglucerase may instead be treated with miglustat, a drug taken orally that inhibits the production of glucocerebrosides. (britannica.com)
- D. Elstein and A. Zimran, "Review of the safety and efficacy of imiglucerase treatment of Gaucher disease," Biologics , vol. 3, pp. 407-417, 2009. (hindawi.com)
- Type 1 is by far the most common form of Gaucher disease and has an especially high incidence among Ashkenazic Jews (ranging from 1 in 500 to 1 in 1,000 births). (britannica.com)
- Type 3 also affects the central nervous system but develops more slowly and is therefore considered a chronic form of Gaucher disease. (britannica.com)
- In addition, there exists a rare cardiovascular form of Gaucher disease (sometimes called Gaucher-like disease) that is characterized by cardiovascular calcification (hardening) and neurological dysfunction of the eye (oculomotor apraxia ). (britannica.com)
- Another form of Gaucher disease is known as the cardiovascular type as it primarily affects the heart, causing the heart valves to harden (calcify). (pharmainfo.net)
- Gaucher disease is a typical lysosomal storage disorder resulting from an inborn deficiency of glucocerebrosidase. (alzheimer-europe.org)
- Factor VIII deficiency (also known as Hemophilia A) is disease of the blood in which a person lacks a protein necessary for clotting. (healthtap.com)
- The factors that contribute to neurologic involvement in patients with types 2 and 3 disease are still unknown but may be related to the accumulation of a cytotoxic glycolipid, glucosylsphingosine, in the brain due to the severe deficiency of glucocerebrosidase activity or to neuroinflammation. (medscape.com)
- Niacin deficiency leads to what disease? (flashcardmachine.com)
- A rare genetic disease caused by a deficiency of enzymes needed for the processing of fatty acids. (thefreedictionary.com)
- Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with -glucocerebrosidase deficiency and a mosaic population of storage cells," Acta Neurologica Scandinavica , vol. 86, no. 4, pp. 407-420, 1992. (hindawi.com)
- Many inherited metabolic liver diseases such as Wilson's disease, Gaucher's disease, lipidosis, alpha-1 antitrypsin deficiency, hemochromatosis, tyrosinemia and glycogen storage diseases are cured by successful liver transplantation. (ynhh.org)
- Consequently, systematic transcriptome analyses could provide useful insights into the resultant molecular events underlying GCase deficiency and glucosylceramide storage as well as related tissue pathogenesis in Gaucher disease. (biomedcentral.com)
- Glucose-6-Phosphate Dehydrogenase Deficiency is a hereditary disease characterised by abnormally low levels of glucose-6-phosphate dehydrogenase. (rareshare.org)
- When certain harmful fatty substances are built to excessive levels in the lungs, bone marrow, liver, spleen and less commonly, the brain, Gaucher's disease occurs. (epharmapedia.com)
- Patients with Gaucher's disease experience enlargement of the liver and spleen and bone destruction. (clinicaltrials.gov)
- Gaucher cells are large, wrinkled-appearing cells that store glycolipids and are usually found in the bone marrow and the spleen. (britannica.com)
- Therapies aimed at managing other symptoms of Gaucher disease include analgesics (to relieve pain) and bisphosphonates (to prevent bone loss). (britannica.com)
- Hepatosplenomegaly, bone lesions, and, more rarely, lungs and other organs are affected by all forms of Gaucher disease. (mhmedical.com)
- Loss of GCase activity leads to accumulation of toxic amounts of glucocerebroside and glucosylsphingosine, causing metabolic dysfunction that eventually results in hepatosplenomegaly, cytopenias, bone disease, and, in some patients, central nervous system manifestations. (pnas.org)
- Bone marrow involvement by malignant lymphoma is much more common with Non-Hodgkin disease than Hodgkin disease and spreads to the marrow 95% of the time hematogenously. (amazonaws.com)
- The purpose of this research study is to determine the prevalence of Gaucher disease in patients with low bone mineral density as observed by DEXA scan, which is a form of X-Ray of the bone. (bioportfolio.com)
- Gaucher disease is a potential secondary cause of low bone mineral density and it is prevalent among patients with low BMD. (bioportfolio.com)
- This cross sectional design study will measure point prevalence of Gaucher disease in patients with low bone mineral density (BMD). (bioportfolio.com)
- The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. (bioportfolio.com)
- Gaucher's disease is a genetic disorder that affects the body's ability to break down fat that can accumulate in the liver/spleen and bone marrow. (randox.com)
- Expression of TRAcP is increased in certain pathological conditions such as Leukemic Reticuloendotheliosis (Hairy Cell Leukemia), Gaucher's Disease, HIV-induced Encephalopathy, Osteoclastoma and in osteoporosis and metabolic bone diseases. (novusbio.com)
- Because of the excess storage of glucosylceramide, there is the potential for significant bone and bone marrow disease, hepatosplenomegaly, anemia and thrombocytopenia. (psychiatryadvisor.com)
- Gaucher disease in the past was diagnosed by bone marrow examination. (psychiatryadvisor.com)
- The femur can show the Erlenmeyer flask deformity which is characteristic of the disease and is a result of impaired bone remodeling during growth. (psychiatryadvisor.com)
- MRI's of the femurs can show critical bone findings such as aseptic necrosis and a moth-eaten appearance, and dual-energy X-ray absorptiometry (DXA) scans (bone density) can identify under-mineralization which is a useful marker of disease activity. (psychiatryadvisor.com)
- Gaucher patients may experience severe bone pain, called "bone crisis," thought to be caused, in part, by insufficient blood circulation to the bone due to interference from Gaucher cells. (cerezyme.com)
- Graft Versus Host Disease is a bone marrow transplant complication in which the immune system recognizes the recipient as "foreign" causing an immunologic attack. (rareshare.org)
- With the global Orphan Drug market expected to grow to $127 billion by 2018 *, and another Rare Disease Day just having passed, there is a constantly growing awareness and interest for this industry, enabling more research to make a difference in patients' lives. (smi-online.co.uk)
- Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population, PLOS Genetics (2018). (medicalxpress.com)
- In total, agreements were signed with four international manufacturers to supply 11 drugs - for the treatment of rare diseases such as multiple sclerosis, Gaucher disease, mucopolysaccharidosis, cystic fibrosis, other orphan metabolic diseases, hemophilia, as well as drugs for stopping bleeding. (nrcu.gov.ua)
- Accumulation of Glycolipid-enriched macrophages establishes a pathoanatomical phenomenon, the so-called Gaucher cells, which can be verified by light microscopy of affected tissues. (centerwatch.com)
- The glycolipid storage gives rise to the characteristic Gaucher cells, macrophages engorged with lipid with a crumpled-tissue-paper appearance and displaced nuclei. (medscape.com)
- As the lipid accumulates, the glucosyl ceramide gets stored in macrophages (the scavenges cells of the body), which takes up characteristic appearance unique to those affected with this disorder ('Gaucher Cells' - basically termed as). (pharmainfo.net)
- The pathogenic pathways resulting from lipid laden macrophages (Gaucher cells) in visceral organs and their abnormal functions are obscure. (biomedcentral.com)
- The pathologic hallmark of Gaucher disease is the presence of lipid laden macrophages, a.k.a. (biomedcentral.com)
- Approximately 400 human diseases due to inborn errors of metabolism are recognised. (ersjournals.com)
- phenylketonuria (PKU), maple syrup urine disease (MSUD) and other inborn errors of metabolism. (hopkinsmedicine.org)
- The Metabolic Clinic consists of a multidisciplinary team dedicated to providing care to children with known or suspected inborn errors of metabolism. (childrens.com)
- Babies who have abnormal newborn screens and go on to be diagnosed with an inborn error of metabolism receive follow up and long term care in the Metabolic Clinic. (childrens.com)
- The Metabolic Clinic consists of a team of specialists dedicated to working with families to provide on-going management recommendations and support for treatment of inborn errors of metabolism. (childrens.com)
- The Metabolic Clinic provides genetic counseling and education related to inborn errors of metabolism. (childrens.com)
- This new approach will bring hope, not only for Gaucher disease, but also for other inborn errors of metabolism that can potentially be treated using fetal gene therapy," said Associate Professor Jerry Chan, Senior Consultant, Department of Reproductive Medicine, KK Women's and Children's Hospital. (ucl.ac.uk)
- This new approach will bring hope, not only for Gaucher disease, but also for other inborn errors of metabolism that can potentially be treated using fetal gene therapy. (bionews.org.uk)
- Vol. 12 (1973) / N o . 1 Inborn errors of metabolism are directly involved in more than 100 human diseases. (docme.ru)
- Gaucher disease is a lysosomal glycolipid storage disorder characterized by the accumulation of glucosylceramide (glucocerebroside) and other glucosphingolipids that are normal intermediates in the catabolism of globoside and gangliosides. (mhmedical.com)
- Gaucher disease is a rare genetic disorder characterized by the deposition of glucocerebroside in cells of the macrophage-monocyte system. (medscape.com)
- Galactosemia is a rare genetic metabolic disorder characterized by the inability to properly metabolize the sugar galactose. (rareshare.org)
- There is discussion on whether the classification into the typical three disease types (type1: non-neuronopathic progress form, type2: acute neuronopathic progress form, type3: chronic neuronopathic progress form) is still up-to-date, since it does not sufficiently reflect the reality of the clinical presentation. (centerwatch.com)
- Portal hypertension Ascites Hypersplenism (with or without splenomegaly) Lower oesophageal varices and rectal varices Synthetic dysfunction Hypoalbuminaemia Coagulopathy Hepatopulmonary syndrome Hepatorenal syndrome Encephalopathy Hepatocellular carcinoma The list of conditions associated with chronic liver disease is extensive and can be categorised in the following way: Viral causes Hepatitis B Hepatitis C Cytomegalovirus (CMV), Epstein Barr virus (EBV), and yellow fever viruses cause acute hepatitis. (wikipedia.org)
- Toxic and drugs Alcoholic liver disease Rarely drug induced liver disease from methotrexate, amiodarone, nitrofurantoin and others Paracetamol (acetaminophen) causes acute liver damage. (wikipedia.org)
- Cystic Fibrosis is one of the most common, life-limiting genetic diseases in children. (nih.gov)
- Scientists have shown that straightforward inherited errors in our genes are responsible for an estimated 3,000 to 4,000 diseases, including Huntington s disease, cystic fibrosis, neurofibromatosis, and Duchenne muscular dystrophy. (dol.gov)
- Creme's 22-year-old half-brother, Shaul, had died in 2002 of cystic fibrosis, the most common fatal inherited disease in the United States. (bnaibrith.org)
- Cystic fibrosis is a recessive genetic disorder, which means that people with the disease must have inherited two copies of the mutated gene that causes it, one from each parent. (bnaibrith.org)
- One of these diseases, familial dysautonomia, is seen almost exclusively in Ashkenazi Jews, while others, such as cystic fibrosis, are almost as common in many other ethnic groups as they are in Ashkenazi Jews. (bnaibrith.org)
- Hemochromatosis is a condition that is caused by the over-absorption and build-up of iron while cystic fibrosis is a metabolic disorder that appears as a result of a build-up of mucus in lungs/liver and intestines. (randox.com)
- Normally, your spleen is about the size of a fist, but a number of conditions - from infections to liver disease and some cancers - can cause an enlarged spleen, also known as splenomegaly (spleh-no-MEG-uh-lee). (google.com)
- A number of infections and diseases can contribute to an enlarged spleen. (google.com)
- Barranger JA, Ginns EI (1989) Glucosylceramide lipidoses: Gaucher disease. (springer.com)
- Understanding the localisation and activity of GBA2 is crucial for investigating the role of non-lysosomal glucosylceramide in Gaucher disease pathology. (asbmb.org)
- Gaucher disease, the most common sphingolipidosis, is caused by a decreased activity of glucosylceramide beta-glucosidase, resulting in the accumulation of glucosylceramide in macrophage-derived cells known as Gaucher cells. (nih.gov)
- In this study, an in vitro model of Gaucher disease was developed by treating the murine macrophage cell line J774 with a specific inhibitor of glucosylceramide beta-glucosidase, conduritol B-epoxide, and feeding red blood cell ghosts, in order to mimic the disease state. (nih.gov)
- Gaucher disease is caused by defective glucocerebrosidase activity and the consequent accumulation of glucosylceramide. (biomedcentral.com)
- Such studies also suggest a central role of glucosylceramide in altered macrophage function as an initiator of the disease pathogenesis. (biomedcentral.com)
- How the insufficiency of GCase activity and the subsequent metabolic disturbances related to glucosylceramide and other sphingolipids (GSLs) could lead to such inflammatory imbalances remains obscure. (biomedcentral.com)
- In 1997, the UK Gauchers Association recruited Tanya Collin-Histed, whose daughter was diagnosed with Type 3 Gaucher disease at 16 months old, to join their Executive Committee to focus on raising awareness of the neurological form of the disease and to support families, whereas previously, the group's attention had mainly focused on Type 1. (gaucher.org.uk)
- Type 3 Gaucher disease also affects the nervous system, but tends to progress more slowly than type 2 are usually not affected The most severe type of Gaucher disease is called the perinatal lethal form. (pharmainfo.net)
- A fatal neurodegenerative condition known as Gaucher disease can be prevented in mice following fetal gene therapy, finds a new study led by UCL, the KK Women's and Children's Hospital and National University Health System in Singapore. (ucl.ac.uk)
- The study, published today in Nature Medicine, highlights the potential of fetal gene therapy to prevent and cure neonatal lethal neurodegenerative diseases in humans in utero. (ucl.ac.uk)
- The team, which also involved scientists from King's College London, Imperial College London, the University of Oxford and an international team of researchers, are now engaged with Apollo Therapeutics in developing gene therapy for Gaucher disease. (ucl.ac.uk)
- They used experimental fetal gene therapy on mice with type 2 Gaucher disease (GD). (bionews.org.uk)
- Hemochromatosis is a common, recessively inherited disease of iron overload. (nih.gov)
- Another explanation for diseases that appear to show reduced penetrance such as hemochromatosis and Gaucher disease, may be the presence of a genetic suppressor of the disease phenotype. (nih.gov)
- For example, genetic testing for hemochromatosis, (1) glaucoma, and some cancers can alert the individual to begin preventive measures before the disease causes harm. (dol.gov)
- Gaucher disease is a rare pan-ethnic disorder which occurs due to an increased accumulation of undegraded glycolipid glucocerebroside inside the cells' lysosomes. (bioportfolio.com)
- The disease occurs worldwide. (britannica.com)
- Basically there are three types of Gaucher Disease- Type 1- Which mainly occurs in 99% of population in which accumulation doesn't take place in brain. (pharmainfo.net)
- A metabolic disorder occurs when the metabolism process fails and causes the body to have either too much or too little of the essential substances needed to stay healthy. (aarp.org)
- A metabolic disorder develops when an abnormal chemical reaction occurs which alters the normal metabolic process. (randox.com)
- Many neurological diseases, such as dementia , cause changes in intellectual status or emotional responsiveness, and specific personality features. (healthcommunities.com)
- It is an essential part of the neurological exam, and helps localize central nervous system dysfunction and aids in diagnosing systemic disease. (healthcommunities.com)
- Malnutrition at the time of diagnosis is associated with a shorter disease duration in ALS," Journal of the Neurological Sciences , vol. 297, no. 1-2, pp. 36-39, 2010. (hindawi.com)
- Discovering that a child has neuronopathic Gaucher disease is devastating but to learn that there are few other sufferers, that there is little information available or known about the disease, and that there is not an effective treatment for the neurological aspects of the disease is at first incomprehensible. (gaucher.org.uk)
- Dr. R 0 Brady Developmental and Metabolic Neurology Branch, National Institute of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, Maryland 20014 (USA) Angew. (docme.ru)
- Type 3 disease has the onset of neurological signs in the first or second decades and life expectancy of 20 to 30 years. (psychiatryadvisor.com)
- Non-coding RNAs (ncRNAs) are a functional class of RNA involved in the regulation of several cellular processes which may modulate disease onset, progression, and prognosis. (frontiersin.org)
- These analyses implicate IFNγ-regulated pro-inflammatory and IL-4-regulated anti-inflammatory networks in differential disease progression with implications for understanding the Gaucher disease course and pathophysiology. (biomedcentral.com)
- SAN FRANCISCO , March 12, 2019 /PRNewswire/ -- The global metabolic disorder therapeutics market size is expected to reach USD 88.93 billion by 2025 , according to a new report by Grand View Research, Inc. The market is anticipated to witness a CAGR of 7.56% during the estimated period. (ptcommunity.com)
- The latter are believed to be the progenitors of Gaucher cells, 4, 6 in addition to their other functions, which include a role in the metabolism and storage of iron. (annals.org)
- Lewy bodies are abnormal aggregates of protein that develop inside nerve cells in both DLB and Parkinson's disease. (genome.gov)
- Employing this novel assay, they demonstrated that GBA2 activity was dramatically reduced in skin cells from a Gaucher disease patient. (asbmb.org)
- In cells, that energy comes from the catabolism of compounds in the metabolic pool, including sugars, glycerol (related to fats), and fatty acids. (scienceclarified.com)
- With the success of stem cell transplantation in 1988 stem cells have been used to treat various diseases through stem cell transplants. (stemcellumbilicalcordblood.com)
- Effect of natural exogenous antioxidants on aging and on neurodegenerative diseases," Free Radical Research , vol. 47, no. 6-7, pp. 451-462, 2013. (hindawi.com)
- Effects of cytoprotective antioxidants on lymphocytes from representative mitochondrial neurodegenerative diseases," Bioorganic and Medicinal Chemistry , vol. 21, no. 4, pp. 969-978, 2013. (hindawi.com)
- Leerink's Schwartz says that the emotional component associated with these diseases, specifically neurodegenerative diseases, can give companies the room to develop these drugs and get payers to sign on. (mmm-online.com)
- While Crohn's is an inflammatory disease of the digestive tract, Gaucher is a metabolic disease, and Canavan and Tay Sachs are both neurodegenerative diseases . (medicalxpress.com)
- All three genes are associated with the brain and with other neurodegenerative diseases. (medicalxpress.com)
- The L444P allele, the most common mutation worldwide, is at polymorphic levels in northern Sweden and is highly associated with neuronopathic disease in all populations. (mhmedical.com)
- Beutler E, Gelbart T, Kuhl W, Sorge J, West C (1991) Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state. (springer.com)
- Zimran A, Gelbart T, Beutler E (1990) Linkage of the PvuII polymorphism with the common Jewish mutation for Gaucher disease. (springer.com)
- Despite the presence of a predominant mutation, there is a large variation in the clinical severity of this disease. (nih.gov)
- They presented their graduation projects recently, focusing on a wide range of health topics including development of disease, genetic mutation and nutritional and public health practices. (gulf-times.com)
- Students of QU's Biomedical Science Department offered new insights and findings in the area of disease development and genetic mutation. (gulf-times.com)
- The N370S mutation is usually protective against neuronopathic disease. (biomedcentral.com)
- In the MiGAP study, a total of 400 participants with and without Parkinson's disease are being studied, with both groups of people with and without GBA mutation. (dzne.de)
- Gaucher disease (GD) is an autosomal recessive hereditary lysosomal storage disorder. (centerwatch.com)
- Hereditary DiseasesЧCauses Cures and Problems. (docme.ru)
- Volume 12 Number 1 January 1973 Pages 1- 90 International Edition in English Hereditary Diseases- Causes, Cures, and Problems By Roscoe 0. (docme.ru)
- GNE myopathy, also known as hereditary inclusion body myopathy (HIBM) type 2, is a rare disease that causes progressive muscle weakness in the muscles of the lower l. (rareshare.org)
- RESEARCH OBJECTIVES Background On September 9 and 10, 2002, NIDDK sponsored a meeting entitled, "Genetic Modifiers of Mendelian Diseases" highlighting progress toward the identification of modifier genes in diseases of interest to NIDDK. (nih.gov)
- Modifier genes may contribute to the variable age of onset seen in this disease. (nih.gov)
- Unprecedented progress in identifying and understanding the 50,000 to 100,000 or so genes that make up the human genome provides an opportunity for scientists to develop strategies to prevent or reduce the effects of genetic disease. (dol.gov)
- The majority of diseases Americans encounter, however, do not result solely from genetic predisposition but from the interaction of genes with environmental factors, including occupation, diet, and lifestyle. (dol.gov)
- They also noted eight-, 12-, and 27-fold increases, respectively, in the frequency of risk -related variants in the genes associated with Gaucher (GBA), Canavan (ASPA), and Tay Sachs (HEXA) among members of the AJ population. (medicalxpress.com)
- Both pulmonary hypertension and cardiac sequelae, such as diastolic dysfunction, have been associated with accelerated mortality in the sickle cell disease population. (tripdatabase.com)
- The more common metabolic lung diseases include pulmonary calcification and ossification, pulmonary alveolar microlithiasis, pulmonary amyloidosis and pulmonary alveolar proteinosis (PAP). (springeropen.com)