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Definition
 
enEnglish
Amino Acid Metabolism, Inborn Errors definition: 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.
inborn aminoacid metabolism disorder definition: disorders affecting amino acid metabolism; majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (for example, acidosis) and neurologic manifestations; present at birth, although they may not become symptomatic until later in life.
inborn renal aminoaciduria definition: inborn genetic mutations causing impairment of renal tubular transport of amino acids.
Renal Aminoacidurias definition: A group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS in URINE. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the PROXIMAL RENAL TUBULES. Renal aminoaciduria are classified by the specific amino acid or acids involved.
inborn carbohydrate metabolism disorder definition: condition in which there is a deviation or interruption in the processing of carbohydrates in the body, its absorption, transport, storage, and utilization.
Fructose Metabolism, Inborn Errors definition: Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. Essential fructosuria is a benign asymptomatic metabolic disorder caused by deficiency in fructokinase, leading to decreased conversion of fructose to fructose-1-phosphate and alimentary hyperfructosemia, but with no clinical dysfunction; may produce a false-positive diabetes test.
Lipid Metabolism, Inborn Errors definition: Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.
Lipidoses definition: Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved.
inborn lipid storage disorder definition: disturbance of lipid metabolism with abnormal deposit of lipids in the cells.
Metabolism, Inborn Errors definition: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
inborn metabolism disorder definition: errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
inborn metal metabolism disorder definition: genetically determined biochemical disorders in metal absorption, metal excretion, metal transport, or incorporation of metal to protein or enzyme.
Lysosomal Storage Diseases definition: Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.
inborn lysosomal enzyme disorder definition: inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.
inborn urea cycle disorder definition: inherited errors in the metabolic reactions occurring in the liver that convert ammonia to urea, resulting from inborn genetic mutations.
Urea Cycle Disorders, Inborn definition: Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA.
inborn lipid/lipoprotein disorder definition: genetically determined biochemical disorders in lipid/lipoprotein transport, apolipoprotein synthesis, HDL synthesis, enzyme deficiency or gene mutation that involves the lipid/lipoprotein metabolism pathway.
inborn immunodeficiency definition: genetically or developmently determined deficiency of immune response or disorder that is characterized by deficient immune response.
inborn biological transport disorder definition: condition in which there is a deviation or interruption in the movement of materials (including biochemical substances and drugs) through a biological system at the cellular level; the defects in transport can occur within intracellular and extracellular compartments.
inborn metabolism disorder diagnosis definition: determination of the presence of errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero based on symptoms, medical history, risk factors, and clinical tests.
Amino Acid Transport Disorders, Inborn definition: Disorders characterized by defective transport of amino acids across cell membranes. These include deficits in transport across brush-border epithelial cell membranes of the small intestine (MICROVILLI) and KIDNEY TUBULES; transport across the basolateral membrane; and transport across the membranes of intracellular organelles. (From Nippon Rinsho 1992 Jul;50(7):1587-92)
Brain Diseases, Metabolic, Inborn definition: Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero.
Genetic Diseases, Inborn definition: Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
Steroid Metabolism, Inborn Errors definition: Errors in metabolic processing of STEROIDS resulting from inborn genetic mutations that are inherited or acquired in utero.
 
 
frFrench
inné definition: Chez certains philosophes, surtout Descartes et son école, connaissances supposées inhérentes à l’intelligence humaine et non acquises par l’expérience, par exemple celles du général et du particulier, de la cause, etc.
naturel definition: Substantif de l’adjectif : facilité, aisance avec laquelle on fait une chose, avec laquelle une chose est faite, par opposition à l’art, l’affectation.
naturel definition: Inclination, humeur, tendances qui caractérisent un individu, qu’il apporte en naissant.
naturel definition:
naturel definition: Habitant originaire d’un pays, spécialement d’un pays peu civilisé.