Disease-gene associations mined from literature

Human genes for methylmalonic acidemia cblA type

Methylmalonic acidemia cblA type [DOID:0060742]

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 MMAA gene on chromosome 4q31.

Synonyms:  methylmalonic acidemia cblA type,  DOID:0060742,  methylmalonic acidemia cblA types,  methylmalonic aciduria cblA type,  methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type ...