methylmalonic acidemia cblB type

Term ID

DOID:0060743

Synonyms

• methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation 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 MMAB gene on chromosome 12q24. (2)

References

• ICD10CM:E71.1
• OMIM:251110
• ORDO:79311

Ontology

Human Disease   ( DOID:0060743 )