Display Settings:


Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

Defective MMAA causes methylmalonic aciduria type cblA

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 (Dobson et al. 2002, Lerner-Ellis et al. 2004).

from REACTOME source record: REACT_169316
Type: pathway
Taxonomic scope
organism-specific biosystem
Homo sapiens

Supplemental Content

Recent activity

Your browsing activity is temporarily unavailable.