Pathway
Defective MMAA causes MMA, cblA type
Defects in MMAA cause methylmalonic aciduria type cblA (cblA aka methylmalonic aciduria type A or vitamin B12-responsive methylmalonic aciduria of cblA complementation type; MIM:251100). Affected individuals accumulate methylmalonic acid in the blood and urine and are prone to potentially life threatening acidotic crises in infancy or early childhood.
REACT:R-HSA-3359475Reactome
What the reference databases state
Statements
2 statements
2 statements · 1 reference database · Subject: Defective MMAA causes MMA, cblA type · Sources: Reactome
- MMAA participates in Defective MMAA causes MMA, cblA typeProteinReactome R-HSA-3359475Inferred only
- MMUT participates in Defective MMAA causes MMA, cblA typeProteinReactome R-HSA-3359475Inferred only