Combined malonic, methylmalonic and ethylmalonic acid semialdehyde dehydrogenase deficiencies: An inborn error of ?-alanine,l-valine andl-alloisoleucine metabolism?

Author:

Gibson K. M.,Lee C. F.,Bennett M. J.,Holmes B.,Nyhan W. L.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference9 articles.

1. Brewster M, Goodman S, Rhead W, Brown G, Collie W, Bornhofen J (1991) Valine-related 3-hydroxyisobutyricaciduria in twins. InProceedings of the Society for Inherited Metabolic Disorders, Santa Fe, New Mexico, USA.

2. Brown GK, Hunt SM, Scholem R et al (1982) ?-Hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations.Pediatrics 70: 532?538.

3. Chitayat D, Meagher-Villemure K, Mamer OA et al (1992) Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria.J Pediatr 121: 86?89.

4. Gibson KM, Lee CF, Kamali V et al (1990) 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency as detected by radiochemical assay in cell extracts by thin-layer chromatography, and identification of three new cases.Clin Chem 36: 297?303.

5. Goodwin GW, Rougraff PM, Davis EJ, Harris RA (1989) Purification and characterization of methylmalonate-semialdehyde dehydrogenase from rat liver.J Biol Chem 264: 14965?14971.

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