3-Hydroxyisobutyric Aciduria: An Inborn Error of Valine Metabolism
نویسندگان
چکیده
منابع مشابه
Argininosuccinic aciduria, an inborn error of amino acid metabolism.
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...
متن کاملNeuropathology of 3-hydroxyisobutyric aciduria, an autopsy case report.
valine metabolism, results from tissue accumulation and significant elevation of urinary excretion of 3hydroxyisobutyric acid. To date, 14 cases of 3-HiB-uria have been reported, the majority of which were male patients, including two sets of male twins, two brothers, and a brother-and-sister pair.1-7 The clinical course varies, from mild attacks of vomiting with normal brain and cognitive deve...
متن کاملMethylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis.
Although metabolic acidosis from a variety of causes is very frequent in infancy, congenital acidosis appears to be extremely rare. Two unrelated cases of a new syndrome are now described with a congenital metabolic acidosis resulting from a block in the conversion of methylmalonic acid to succinic acid. The first had persistent mild acidosis with acute episodes of severe metabolic acidosis dur...
متن کاملECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.
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,...
متن کاملAn 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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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1991
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-199110000-00006