Term Name: | methylmalonic acidemia cblA type |
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Synonyms: | methylmalonic aciduria cblA type, methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type |
Definition: | 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. |
Ontology: | Human Disease [DOID:0060742] ( DOID:0060742 ) |