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Article

Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.

Journal of inherited metabolic disease - 1 Jan 2012

Carrillo-Carrasco Nuria, Chandler Randy J, Venditti Charles P

Abstract excerpt

Combined methylmalonic acidemia and homocystinuria, cblC type, is an inborn error of intracellular cobalamin metabolism with a wide spectrum of clinical manifestations that is stated to be the most common inherited disorder of cobalamin metabolism. This metabolic disease is caused by mutations in the MMACHC gene and results in impaired intracellular synthesis of adenosylcobalamin and methylcobalamin, cofactors...

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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: 21748409
DOI: 10.1007/s10545-011-9364-y
PMCID: PMC4219318

Genes

MMACHC

Provenance

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