Deficiency of methylmalonyl-CoA mutase

Deficiency of methylmalonyl-coenzyme A mutase (disorder)

active

Code	`124680001`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20020131

Synonyms

Deficiency of methylmalonyl-coenzyme A mutase
Vitamin B12-unresponsive methylmalonic aciduria

Parents (4)

85995004Autosomal recessive hereditary disorder disorder
124686007Deficiency of mutase disorder
84618009Disorder of propionate AND/OR methylmalonate metabolism disorder
86095007Inborn error of metabolism disorder

Children (2)

237945003Complete deficiency of methylmalonyl-CoA mutase disorder
237946002Partial deficiency of methylmalonyl-CoA mutase disorder