Human genes for methylmalonic acidemia cblB type
Methylmalonic acidemia cblB type [DOID:0060743]
A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAB gene on chromosome 12q24.
Synonyms: methylmalonic acidemia cblB type, DOID:0060743, methylmalonic acidemia cblB types, methylmalonic aciduria cblB type, methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type ...