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Fatty Acid Oxidation disorders

Background

Fatty acids are one of the body's fuels: oxidation is the process by which they are broken down to release energy. This process has many steps, each catalysed by a different enzyme. Fatty acid oxidation disorders result from deficiency of one of these enzymes:

medium chain acyl-CoA dehydrogenase deficiency (MCADD)
very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency
short-chain acyl-CoA dehydrogenase (SCAD) deficiency
multiple acyl-CoA dehydrogenase (MADD) deficiency (= glutaric aciduria type II, GA II)
long-chain hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
trifunctional protein deficiency
carnitine palmitoyl-transferase I (CPT I) deficiency
carnitine palmitoyl-transferase II (CPT II) deficiency
carnitine acylcarnitine translocase deficiency
primary (systemic) carnitine deficiency

What are the symptoms?

Medical text written October 2000 by Dr A Morris. Last reviewed August 2005 by Dr A Morris, Consultant Paediatrician with special interest in metabolic disease, Willink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, Manchester, UK.

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