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Organic Acidaemias
Background
The organic acidaemias (also known as organic acidurias) are a group of inherited disorders that affect the way the body is able to metabolise protein. In each disorder there is a genetic deficiency of a particular enzyme involved in the breakdown of one or more aminoacids and this leads to a build up of harmful acidic chemicals in the body. Individual disorders are usually named after the type of chemical that accumulates in the blood or urine or, alternatively, according to the enzyme that is deficient. For example in propionic acidaemia there is an accumulation of propionic acid in blood but the condition is also called propionyl - CoA carboxylase deficiency since it is the enzyme propionyl - CoA carboxylase that is deficient.
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