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Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism. 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 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 diseases. The term ''inborn error of metabolism'' was coined by a British physician, Archibald Garrod (1857–1936), in the early 20th century (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.〔http://www.esp.org/books/garrod/inborn-errors/facsimile/〕 ==Classification== Traditionally the inherited metabolic diseases were classified as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases. In recent decades, hundreds of new inherited disorders of metabolism have been discovered and the categories have proliferated. Following are some of the major classes of congenital metabolic diseases, with prominent examples of each class. Many others do not fall into these categories. *Disorders of carbohydrate metabolism * *E.g., glycogen storage disease *Disorders of amino acid metabolism * *E.g., phenylketonuria, maple syrup urine disease, glutaric acidemia type 1 *Urea Cycle Disorder or Urea Cycle Defects * *E.g., Carbamoyl phosphate synthetase I deficiency *Disorders of organic acid metabolism (organic acidurias) * *E.g., alcaptonuria, 2-hydroxyglutaric acidurias *Disorders of fatty acid oxidation and mitochondrial metabolism * *E.g., Medium-chain acyl-coenzyme A dehydrogenase deficiency (often shortened to MCADD.) *Disorders of porphyrin metabolism * *E.g., acute intermittent porphyria *Disorders of purine or pyrimidine metabolism * *E.g., Lesch-Nyhan syndrome *Disorders of steroid metabolism * *E.g., lipoid congenital adrenal hyperplasia, congenital adrenal hyperplasia *Disorders of mitochondrial function * *E.g., Kearns-Sayre syndrome *Disorders of peroxisomal function * *E.g., Zellweger syndrome *Lysosomal storage disorders * *E.g., Gaucher's disease * *E.g., Niemann Pick disease 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「inborn error of metabolism」の詳細全文を読む スポンサード リンク
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