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Article

Molecular, biochemical, and structural analysis of a novel mutation in patients with methylmalonyl-CoA mutase deficiency.

Gene - 15 Jan 2016

Keyfi F, Sankian M, Moghaddassian M, Rolfs A, Varasteh A R

Abstract excerpt

BACKGROUND: Methylmalonic aciduria (MMA) is an inborn error of metabolism resulting from genetic defects in methylmalonyl-CoA mutase (MCM). This enzyme is encoded by the MUT gene and is required for the degradation of odd-chain fatty acids, the amino acids valine, isoleucine, methionine, and threonine, and cholesterol. METHOD: Three unrelated affected patients with isolated MMA and their parents were studied. The...

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Identifiers

PMID: 26449400
DOI: 10.1016/j.gene.2015.10.002

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Source receipt: pubmed, retrieved 7 Sept 2026.

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