Also Known As
methylmalonic acidemia cblB typemethylmalonic acidemia, cblB typemethylmalonic aciduria cblB typemethylmalonic aciduria, cblB typemethylmalonic aciduria, vitamin B12-responsive, cblB typemethylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation typevitamin B12-responsive methylmalonic acidemia type cblBvitamin B12-responsive methylmalonic aciduria, type cblBmethylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type
Definition
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.