Reactome: A Curated Pathway Database

Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD (R-HSA-3359473)

Species Homo sapiens

Summation

Defects in MMADHC cause methylmalonic aciduria and homocystinuria type cblD (MMAHCD; MIM:277410), a disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) (Coelho et al. 2008).

Locations in the PathwayBrowser
Diseases
Name Identifier Synonyms
methylmalonic aciduria and homocystinuria type cblD 0050716 [Cobalamin D deficiency]
Literature References
pubMedId Title Journal Year
18385497 Gene identification for the cblD defect of vitamin B12 metabolism N. Engl. J. Med. 2008