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Article

Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia.

Proceedings of the National Academy of Sciences of the United States of America - 1 Apr 1990

Ledley F D, Jansen R, Nham S U, Fenton W A, Rosenberg L E

Abstract excerpt

Methylmalonyl-CoA mutase (EC 5.4.99.2) is a mitochondrial matrix enzyme whose activity is deficient in the inherited disorder methylmalonic acidemia. Previous studies on primary fibroblast cell lines from patients with methylmalonic acidemia have delineated a variety of biochemical phenotypes underlying this disorder. One cell line with primary mutase apoenzyme deficiency exhibited a particularly unusual...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 1970180
DOI: 10.1073/pnas.87.8.3147
PMCID: PMC53851

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia.PMID 1970180Read ↗

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