Methylmalonic acidemia
From Wikipedia, the free encyclopedia
| ICD-10 | E71.1 |
|---|---|
| ICD-9 | 270.3 |
| MedlinePlus | 001162 |
| eMedicine | neuro/576 |
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.
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[edit] 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.
[edit] Types
- Mendelian Inheritance in Man (OMIM) 251100 - cblA type
- Mendelian Inheritance in Man (OMIM) 251110 - cblB type
- Mendelian Inheritance in Man (OMIM) 277400 - cblC type
- Mendelian Inheritance in Man (OMIM) 277410 - cblD type
- Mendelian Inheritance in Man (OMIM) 277380 - cblF type
- Mendelian Inheritance in Man (OMIM) 606169 - cblH type
- 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 pathways in which the disease may develop displays its locus heterogeneity.
[edit] See also
[edit] References
- Organic Acidemia Association
- NLM methylmalonicacidemia
- Washington Health Center
- DDB 29509 - type 1
- DDB 29510 - type 2
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