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Article

Late-onset cobalamin C deficiency Chinese sibling patients with neuropsychiatric presentations.

Metabolic brain disease - 1 Jun 2018

Wang Sheng-Jun, Yan Chuan-Zhu, Liu Yi-Ming, Zhao Yu-Ying

Abstract excerpt

The Cobalamin C deficiency (cblC), characterized with elevated methylmalonic acidemia and homocystinuria in plasma, is an inborn error of cobalamin metabolism. The late-onset cblC siblings patients were rarely reported. In this study, we analyzed the clinical presentations and treatment outcomes of late-onset cblC in Chinese sibling patients with neuropsychiatric presentations. The clinical data of four pairs of...

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Identifiers

PMID: 29374341
DOI: 10.1007/s11011-018-0189-3

Genes

MMACHC

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