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).
|methylmalonic aciduria and homocystinuria type cblD||0050716||[Cobalamin D deficiency]|
|18385497||Gene identification for the cblD defect of vitamin B12 metabolism||N. Engl. J. Med.||2008|