Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities
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چکیده
منابع مشابه
An Inborn Error of Fructose Metabolism
Although essential fructosuria has been known for 70 years and has been recognized as an inborn error of metabolism for more than 20 years (Lasker, 1941), it is only recently that a second metabolic anomaly involving fructose has been described by Froesch, Prader, Labhart, Stuber and Wolf (1957). These authors recorded four affected (two children and two adults) and three probably affected memb...
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Two siblings with fatal Leigh disease had increased excretion of S-(2-carboxypropyl)cysteine and several other metabolites that are features of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency, a rare defect in the valine catabolic pathway associated with Leigh-like disease. However, this diagnosis was excluded by HIBCH sequencing and normal enzyme activity. In contrast to HIBCH deficiency,...
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It is probable that many, if not all, of the inherited ('inborn') metabolic disturbances result from a specific enzyme defect, arising from a single abnormal gene. Examples are now known of a number of such inherited defects, some involving amino acids, which result in a block of a metabolic pathway. For example, the normal pathway for the metabolism of phenylalanine and tyrosine is by a series...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2017
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddx157