Genetic defects in fatty acid oxidation

The study of genetic defects in the oxidation of fat fuels is a relatively new field compared with the study of such defects in carbohydrate and amino acid metabolism. The first genetic defect was reported in 1970 and the first enzyme deficiency in 1973. The probable reasons for the late discovery of these defects are of some interest  

Defects in several proteins involved in fatty acid oxidation are known. These are carnitine palmitoyltransferases, any of the three acyl-CoA dehydrogenases, or the protein that 

Patients with this deficiency present with myopathy, recurrent aching muscles and myoglobinuria after prolonged exercise or starvation. It is interesting to note that there are more cases of a deficiency of this enzyme in muscle than there are cases of a deficiency of any of the glycolytic enzymes (including phosphorylase, see Chapter 6). 

Children with a primary deficiency of the carnitine transporter present with acute episodes of hypoglycaemia leading to loss of consciousness during even a short fast. (See Chapter 9 for a role of carnitine) in the Krebs cycle. 

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