inborn$38256$ - translation to ελληνικό
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inborn$38256$ - translation to ελληνικό

CLASS OF DISEASE INCLUDING ENDOCRINE DISEASES, NUTRITIONAL DISEASES AND METABOLIC DISEASES
Metabolistic disease; Congenital metabolic disease; Metabolism, inborn errors; Storage disease; Errors of metabolism; Metabolic defect; Metabolic Diseases; Inborn errors of metal metabolism; Inborn amino acid metabolism disorder; Inborn metabolic disorder; Enzymopathy; Storage disorder; Inherited biochemical defects; Enzyme deficiency; Metabolic deficiencies; Inherited metabolic diseases; Metabolism, inborn error; Inborn error of metabolism
  • Gas chromatography–mass spectrometry (GCMS)

inborn      
adj. έμφυτος

Ορισμός

lipoidosis
[?l?p??'d??s?s]
¦ noun variant spelling of lipidosis.

Βικιπαίδεια

Inborn errors of metabolism

Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or due to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic disorders. To this concept it's possible to include the new term of Enzymopathy. This term was created following the study of Biodynamic Enzymology, a science based on the study of the enzymes and their derivated products. Finally, inborn errors of metabolism were studied for the first time by British physician Archibald Garrod (1857–1936), in 1908. He is known for work that prefigured the "one gene-one enzyme" hypothesis, based on his studies on the nature and inheritance of alkaptonuria. His seminal text, Inborn Errors of Metabolism, was published in 1923.