Ontology highlight
ABSTRACT:
SUBMITTER: Tanpaiboon P
PROVIDER: S-EPMC3755569 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
JIMD reports 20121229
Cobalamin C disease (cblC), a form of combined methylmalonic acidemia and hyperhomocysteinemia caused by mutations in the MMACHC gene, may be the most common inborn error of intracellular cobalamin metabolism. The clinical manifestations of cblC disease are diverse and range from intrauterine growth retardation to adult onset neurological disease. The occurrence of structural heart defects appears to be increased in cblC patients and may be related to the function of the MMACHC enzyme during car ...[more]