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Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD

Stable Identifier
R-HSA-3359473
Type
Pathway
Species
Homo sapiens
Locations in the PathwayBrowser
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).

Literature References
PubMed ID Title Journal Year
18385497 Gene identification for the cblD defect of vitamin B12 metabolism N. Engl. J. Med. 2008
Participants
Participant Of
Disease
Name Identifier Synonyms
methylmalonic aciduria and homocystinuria type cblD 0050716 Cobalamin D deficiency