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).
|methylmalonic aciduria and homocystinuria type cblC||0050715||[Cobalamin C deficiency]|
|16311595||Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type||Nat. Genet.||2006|