methylmalonic acidemia cblA type

Term ID

DOID:0060742

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. (2)

References

• ICD10CM:E71.1
• OMIM:251100
• ORDO:79310

Ontology

Human Disease   ( DOID:0060742 )