Reactome: A Curated Pathway Database

Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC (R-HSA-3359474)

Species Homo sapiens

Summation

Defects in MMACHC cause methylmalonic aciduria and homocystinuria type cblC (MMAHCC; MIM:277400). MMAHCC is the most common disorder of cobalamin metabolism and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Affected individuals may have developmental, haematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings (Lerner-Ellis et al. 2006).

Locations in the PathwayBrowser
Diseases
Name Identifier Synonyms
methylmalonic aciduria and homocystinuria type cblC 0050715 [Cobalamin C deficiency]
Literature References
pubMedId Title Journal Year
16311595 Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type Nat. Genet. 2006