Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency

mutation in methylmalonyl-CoA mutase gene (MUT); mut(0) is complete enzyme deficiency; mut(-) is partial enzyme deficiency.

Also Known As:

MMA due to MCM Deficiency; Methylmalonic Acidemia due to Methylmalonyl-CoA Mutase Deficiency; Methylmalonic Aciduria, MUT Type; Methylmalonic Aciduria, mut(-) Type; Methylmalonic Aciduria, mut(0) Type

Networked: 1 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Vitamin B 12 Deficiency (Vitamin B12 Deficiency)

Experts

1.	Bennett, Michael J: 1 article (01/2010)
2.	Chen, Jie: 1 article (01/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency:

1.	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 01/01/2010 - "The measurement of plasma or serum methylmalonic acid (MMA) is useful for monitoring therapy in patients with methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency, defects of vitamin B12 metabolism, and also for the determination of functional vitamin B12 deficiency. "
2.	Methylmalonic AcidIBA 01/01/2010 - "The measurement of plasma or serum methylmalonic acid (MMA) is useful for monitoring therapy in patients with methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency, defects of vitamin B12 metabolism, and also for the determination of functional vitamin B12 deficiency. "

Therapies and Procedures

1.	Therapeutics 01/01/2010 - "The measurement of plasma or serum methylmalonic acid (MMA) is useful for monitoring therapy in patients with methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency, defects of vitamin B12 metabolism, and also for the determination of functional vitamin B12 deficiency. "