1.4

Disorders of fatty acid and ketone body metabolism

This group of conditions includes disorders of mitochondrial fatty acid oxidation, carnitine metabolism, and also ketone body synthesis, breakdown and transport.

Clinically, mobilisation of stored triglycerides during fasting or prolonged exercise results in the hepatic production of ketone bodies, which serve as an energy source when glucose is not readily available, in particular for muscles and brain. Brain has in fact a high energy demand but has a limited ability to use fatty acids as energy source, so ketone bodies (which are produced starting from fatty acids) are able to provide the brain with an alternative source of energy.

The main ketone bodies are acetoacetate (AcAc), 3-β-hydroxybutyrate (3HB) and acetone. Abnormally large quantities of ketone bodies can be found in the blood of patients with diabetic ketoacidosis, alcoholic ketoacidosis and some other rare conditions.

1.4.a

Disorders of carnitine metabolism

Primary carnitine deficiency Carnitine palmitoyltransferase 1A deficiency Carnitine palmitoyltransferase 1C…
1.4.b

Disorders of mitochondrial fatty acid oxidation

Short-chain acyl-CoA dehydrogenase deficiency Medium-chain acyl-CoA dehydrogenase deficiency Very long-chain…
1.4.c

Disorders of ketone body metabolism

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Succinyl-CoA:3-oxoacid-CoA transferase deficiency Mitochondrial acetoacetyl-CoA thiolase deficiency…

Subnetworks

cfao 1

C-FAO

Carbohydrate, fatty acid oxidation and ketone bodies disorders

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