Methylmalonic acidemia

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. more...

Methylmalonic acidemia does not always result in death, if it able to be diagnosed at an early age. more...

more...

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. more...

Types

• OMIM 251100 - cblA type
• OMIM 251110 - cblB type
• OMIM 277400 - cblC type
• OMIM 277410 - cblD type
• OMIM 277380 - cblF type
• OMIM 606169 - cblH type
• OMIM 251000 - mut type

Read more at Wikipedia.org