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Article

Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).

Journal of inherited metabolic disease - 1 Aug 1997

Rosenblatt D S, Aspler A L, Shevell M I, Pletcher B A, Fenton W A, Seashore M R

Abstract excerpt

The clbC form of methylmalonic acidaemia is a rare and poorly understood condition which results from impaired biosynthesis of methylcobalamin and adenosylcobalamin. The consequent functional deficiencies of methylmalonyl-CoA mutase and methionine synthase produce both methylmalonic aciduria and homocystinuria. Systemic symptoms and neurological decompensation comprise the clinical phenotype. In an effort to...

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Identifiers

PMID: 9266389
DOI: 10.1023/a:1005353530303

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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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