Methylmalonic aciduria

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Classification according to ICD-10
E71.1 Other branched amino acid metabolism disorders
- methylmalonic acidemia
ICD-10 online (WHO version 2019)

The methylmalonic (MMA) is a congenital metabolic disorder which the group of the organic acidurias is assigned. It follows an autosomal recessive inheritance pattern and has an incidence of about 1: 50,000. A defect in the vitamin B12- dependent enzyme methylmalonyl-CoA mutase (an isomerase ) or a lack of adenosylcobalamin from vitamin B12 (a cofactor of methylmalonyl-CoA mutase) result in the amino acids valine , isoleucine , methionine and threonine as well Uneven chain fatty acids and cholic acid not completely broken down. There is an accumulation of methylmalonyl-CoA in the metabolism. This accumulation of methylmalonyl-CoA leads to intoxication , which manifests itself in metabolic crises. If left untreated, metabolic crises can lead to severe brain damage or death within a very short time.

literature

  • Brigitte Marian (Ed.): Illness, causes and symptoms of illness. (= MCW block 8) .1. Edition. Facultas Verlag, Vienna 2007, ISBN 978-3-7089-0183-1 .

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