methylmalonic aciduria, cblB type
An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial.
MONDO:0017214
vitamin B12-responsive methylmalonic acidemia
is_a
methylmalonic acidemia cblB type
exact
methylmalonic acidemia, cblB type
exact
methylmalonic aciduria, cblB type
exact
methylmalonic aciduria, vitamin B12-responsive, cblB type
exact
vitamin B12-responsive methylmalonic acidemia type cblB
exact
vitamin B12-responsive methylmalonic aciduria, type cblB
exact