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Article

Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#.

International journal of clinical and experimental pathology - 1 Jan 2015

Wang Jun, Li Erzhen, Wang Liwen, Wang Zhilong, Yang Shenghai, Zhou Qiao, Chen Qian

Abstract excerpt

Methylmalonic aciduria and homocystinuria, cblC type, is the most common disorder of intracellular vitamin B12 (cobalamin, cbl) metabolism, which results in impaired biosynthesis of methylcobalamin and adenosylcobalamin. The gene MMACHC responsible for the cblC type had been identified, which enables molecular diagnostics. Here, we report four cblC type cases, which were identified by the typical manifestations,...

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Share to Amino Acid Metabolism, Inborn Errors
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26464686
PMCID: PMC4583918

Genes

MMACHC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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