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Article

Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.

Journal of inherited metabolic disease - 1 Dec 2010

Wang Fei, Han Lianshu, Yang Yanling, Gu Xuefan, Ye Jun, Qiu Wenjuan, Zhang Huiwen, Zhang Yafen, Gao Xiaolan, Wang Yu

Abstract excerpt

The most common inborn error of cobalamin (cbl) metabolism in China is the cblC type characterized by combined methylmalonic acidemia and hyperhomocysteinemia. The clinical presentation is relatively nonspecific, such as feeding difficulty, recurrent vomiting, hypotonia, lethargy, seizures, progressive developmental delay, and mental retardation, together with anemia and metabolic acidosis. More specific...

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Source

Identifiers

PMID: 20924684
DOI: 10.1007/s10545-010-9217-0

Genes

MMACHC

Provenance

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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