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Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) is one of the enzymes involved in the breakdown of fatty acids. A deficiency of this enzyme is associated with life threatening episodes of hypoketotic hypoglycaemia during prolonged fasting. Neuropathy and retinopigmentary changes were mentioned in only a few cases.The case histories of two girls, aged 8 and 15 years, with LCHAD deficiency are reported.Both children with LCHAD deficiency exhibited extensive macular pigmentary depositions and a 'salt and pepper' scattering of pigment in their retinas. The patients have decreasing visual acuity.The early recognition of LCHAD deficiency can increase the life expectancy in these patients through avoiding catabolism and through appropriate diets. Patients tend to be free of symptoms between attacks, however. Testing for the disorder, therefore, should be included in the diagnostic process for children with retinal dystrophy, in particular when other clinical symptoms are known to have occurred.