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Article

Causes of and diagnostic approach to methylmalonic acidurias.

Journal of inherited metabolic disease - 1 Jun 2008

Fowler B, Leonard J V, Baumgartner M R

Abstract excerpt

Several mutant genetic classes that cause isolated methylmalonic acidurias (MMAuria) are known based on biochemical, enzymatic and genetic complementation analysis. The mut(0) and mut(-) defects result from deficiency of MMCoA mutase apoenzyme which requires adenosyl-cobalamin (Ado-Cbl) as coenzyme. The cblA, cblB and the variant 2 form of cblD complementation groups are linked to processes unique to Ado-Cbl...

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Identifiers

PMID: 18563633
DOI: 10.1007/s10545-008-0839-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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