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Article

A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria, cblC type, in China.

Journal of the neurological sciences - 15 Jul 2012

Wang Xianling, Sun Wenjun, Yang Yanhui, Jia Jianping, Li Cunjiang

Abstract excerpt

BACKGROUND: Combined methylmalonic aciduria and homocystinuria, cblC type (cblC disease), is the most common inborn disorder of cobalamin metabolism. This disorder is caused by MMACHC gene mutations, and it is usually diagnosed in the early neonatal period. Late-onset cblC is rare and difficult to recognize due to a wide diversity of symptoms. METHODS: Three cases with late-onset combined methylmalonic aciduria...

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Source

Identifiers

PMID: 22560872
DOI: 10.1016/j.jns.2012.04.012

Genes

MMACHC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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