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Defective CD320 causes methylmalonic aciduria

Stable Identifier
R-HSA-3359485
Type
Pathway
Species
Homo sapiens
Locations in the PathwayBrowser
Summation

Defects in CD320 cause methylmalonic aciduria type TCblR (MMATC aka methylmalonic aciduria; MIM:613646) resulting in elevated methylmalonic acid (MMA) and homocysteine (HCYS) in newborns (Quadros et al. 2010).

Participants
Participant Of