Methylmalonic acidemia: Difference between revisions
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'''Methylmalonic acidemia''' (MMA, also known as "methylmalonic aciduria") is an inborn error of intermediary [[metabolism]] that may present in the early [[neonatal]] period with progressive [[encephalopathy]] and death due to a secondary [[hyperammonemia]]. | '''Methylmalonic acidemia''' (MMA, also known as "methylmalonic aciduria") is an inborn error of intermediary [[metabolism]] that may present in the early [[neonatal]] period with progressive [[encephalopathy]] and death due to a secondary [[hyperammonemia]]. | ||
Revision as of 17:23, 9 August 2012
| Methylmalonic acidemia | |
 | |
|---|---|
| Methylmalonic acid | |
| ICD-10 | E71.1 |
| ICD-9 | 270.3 |
| DiseasesDB | 29509 Template:DiseasesDB2 |
| MedlinePlus | 001162 |
| eMedicine | neuro/576 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Methylmalonic acidemia (MMA, also known as "methylmalonic aciduria") is an inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy and death due to a secondary hyperammonemia.
Methylmalonic acidemia does not always result in death, if it is diagnosed at an early age.
Causes
Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly. Methylmalonic acidemia is a disorder of amino acid metabolism, involving a defect in the conversion of methylmalonyl-coenzyme A (CoA) to succinyl-CoA by methylmalonyl-CoA mutase.
Types
- Online Mendelian Inheritance in Man (OMIM) 251100 - cblA type
- Online Mendelian Inheritance in Man (OMIM) 251110 - cblB type
- Online Mendelian Inheritance in Man (OMIM) 277400 - cblC type
- Online Mendelian Inheritance in Man (OMIM) 277410 - cblD type
- Online Mendelian Inheritance in Man (OMIM) 277380 - cblF type
- Online Mendelian Inheritance in Man (OMIM) 606169 - cblH type
- Online Mendelian Inheritance in Man (OMIM) 251000 - mut type
Cobalmin (vitamin B12) is also needed for the conversion of methylmalonyl-CoA to Succinyl-CoA. Mutations leading to defects in cobalmin or in its transport frequently result in the development of acidemia. The numerous pat
See also
References
- Organic Acidemia Association
- Methylmalonic acidemia at NLM Genetics Home Reference
- Washington Health Center