Table. [Isolated Methylmalonic Acidemia/Aciduria: Included Phenotypes]. - GeneReviews®

Enzymatic Subtype	Methylmalonic Acidemia Phenotype	Associated Gene
Complete deficiency of methylmalonyl-CoA mutase	mut ⁰	Infantile/non-B₁₂-responsive	MMUT
Partial deficiency of methylmalonyl-CoA mutase	mut ^–	Partially deficient or B₁₂-responsive
Defect in the synthesis or transport of the methylmalonyl-CoA mutase cofactor, 5'-deoxyadenosyl-cobalamin	cblA	Partially deficient or B₁₂-responsive	MMAA
cblB	Infantile/non-B₁₂-responsive or, rarely, partially deficient or B₁₂-responsive	MMAB
cblD-MMA	Partially deficient or B₁₂-responsive	MMADHC
Deficient activity of methylmalonyl-CoA epimerase	MCEE	Methylmalonyl-CoA epimerase deficiency	MCEE

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