RETINAL DYSTROPHY IN LONG-CHAIN 3-HYDROXY-ACYL-COA DEHYDROGENASE-DEFICIENCY

Background-Long chain 3-hydroxyacyl-acyl-CoA dehydrogenase (LCHAD) is one of the enzymes involved in the breakdown of fatty acids. A deficie ncy of this enzyme is associated with life threatening episodes of hyp oketotic hypoglycaemia during prolonged fasting. Neuropathy and retino pigmentary changes were mentioned in only a few cases. Methods-The cas e histories of two girls, aged 8 and 15 years, with LCHAD deficiency a re reported. Results-Both children with LCHAD deficiency exhibited ext ensive macular pigmentary depositions and a 'salt and pepper' scatteri ng of pigment in their retinas. The patients have decreasing visual ac uity. Conclusion-The early recognition of LCHAD deficiency can increas e the life expectancy in these patients through avoiding catabolism an d through appropriate diets. Patients tend to be free of symptoms betw een attacks, however. Testing for the disorder, therefore, should be i ncluded in the diagnostic process for children with retinal dystrophy, in particular when other clinical symptoms are known to have occurred .