OnlineIMD
Methylmalonic aciduria, cblA type
(CblA disease)
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
MMAA
/ Methylmalonic Aciduria (Cobalamin) CblA Type
4q31.21
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Methylmalonic aciduria type A protein, mitochondrial
Disease group(s)
21.9.2 Disorders of intracellular cobalamin metabolism