2-methyl-3-hydroxybutyric acid
National Institutes of Health
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Introduction: Mitochondrial acetoacetyl-CoA thiolase (3-oxothiolase) deficiency is a rare metabolic disorder involving ketone…
ABSTRACT: Cultured fibroblasts from 13 patients with organic aciduria suggesting 3-oxothiolase deficiency were studied by…
2-Methyl-3-hydroxybutyric aciduria (McKusick 20375) is a disorder of isoleucine metabolism characterized by urinary excretion of…
[3-Ketothiolase deficiency .(McKusick 20375) is an uncommon inborn error of isoleucine catabolism, characterized by the excretion…
3-ketothiolase deficiency is an inherited disorder of isoleucine degradation, characterized by excretion of 2-methyl-3…
Two patients have been studied in whom the activity of the short chain-length-specific mitochondrial 3-ketothiolase was found to…
By gas chromatographic mass spectrometric analysis, 2-methyl-3-oxovaleric acid, 3-oxovaleric acid, 3-hydroxyvaleric acid and 2…
An 11-year old girl with spastic paraplegia and mental retardation has suffered from attacks of metabolic acidosis since the age…
A number of previously unrecognized abnormal metabolites have been identified and quantitated in the urine of a patient with an…