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Article

Varying neurological phenotypes among muto and mut- patients with methylmalonylCoA mutase deficiency.

American journal of medical genetics - 1 Mar 1993

Shevell M I, Matiaszuk N, Ledley F D, Rosenblatt D S

Abstract excerpt

MethylmalonylCoA mutase (MCM) is a mitochondrial homodimer responsible for the isomerization of methylmalonylCoA to succinylCoA. Apomutase defects are traditionally divided into muto and mut- classes on the basis of residual mutase activity. Clinical findings were reviewed in 20 patients with methylmalonic aciduria secondary to MCM deficiency. All 11 muto patients had an early neonatal presentation; 6 of these...

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Identifiers

PMID: 7681251
DOI: 10.1002/ajmg.1320450521

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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