ABSTRACT
Organic acid disorders are caused by an absence or a deficiency of one or more of the enzymes needed to complete the breakdown of dietary protein. Fatty acid oxidation disorders (FODs) are caused by an absence or a deficiency of one of several enzymes that are needed to convert stored fats into energy. Glutaric aciduria is a rare metabolic disorder that belongs to a group of conditions known as organic acidaemias, in which the individual is unable to break down certain proteins. Isovaleric acidaemia is a rare metabolic disorder that belongs to a group of conditions known as the organic acidaemias. It is caused by a deficiency of the enzyme isovaleryl CoA dehydrogenase (IVD), which is needed by the body to break down the amino acid leucine. Propionic acidaemia is usually diagnosed on the basis of a clinical evaluation, routine laboratory tests and specialised tests to demonstrate the deicient activity of the propionyl CoA carboxylase enzyme.
