Disease

methylmalonic acidemia cblA 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.
Synonyms
  • methylmalonic aciduria cblA type
  • methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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