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Article

Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L).

Pediatrics international : official journal of the Japan Pediatric Society - 1 Dec 2013

Underhill Hunter R, Hahn Si Houn, Hale Susan L, Merritt J Lawrence

Abstract excerpt

Deficiency in methylmalonyl-coenzyme A mutase (MCM) is associated with accumulation of methylmalonic acid (MMA) and clinical outcomes that include early death and neurological impairment. Reported here are two unrelated patients with a homozygous p.P86L mutation in the MUT gene, which encodes MCM, diagnosed following newborn screening. This is the first description of a homozygous mutation in the N-terminal...

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Identifiers

PMID: 24330302
DOI: 10.1111/ped.12195

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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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