Reactome: A Curated Pathway Database

Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC

Stable Identifier
R-HSA-3359474
Type
Pathway
Species
Homo sapiens
Locations in the PathwayBrowser
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).

Literature References
Participants
Participant Of
Disease
Diseases
Name Identifier Synonyms