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2-keto-4-methylthiobutyric acid and Homocystinuria

2-keto-4-methylthiobutyric acid has been researched along with Homocystinuria in 1 studies

2-keto-4-methylthiobutyric acid: RN given refers to parent cpd; structure
4-methylthio-2-oxobutanoic acid : A 2-oxo monocarboxylic acid derived from L-methionine via the action of methionine transaminase.

Homocystinuria: Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19901 (100.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Benevenga, NJ1

Reviews

1 review available for 2-keto-4-methylthiobutyric acid and Homocystinuria

ArticleYear
Evidence for alternative pathways of methionine catabolism.
    Advances in nutritional research, 1984, Volume: 6

    Topics: Animals; Betaine; Carbon Dioxide; Choline; Decarboxylation; Diet; Homocystinuria; Humans; Liver; Met

1984