Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6–C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?

Hypoketotic hypoglycaemia is a frequent feature of defective mitochondrial β-oxidation (Gregersen, 1985), whereas pigmentary retinopathy and peripheral neuropathy are frequent symptoms in peroxisomal disorders (Schutgens et al., 1986). Two siblings presented a combination of these features associated with hydroxydicarboxylic aciduria, pointing to a defect of the β-oxidation at the level of 3-hydroxyacyl-CoA dehydrogenase or 3-ketothiolase. In addition, accumulation of di- and trihydroxycoprostanoic acids in plasma and abnormal morphology of hepatic peroxisomes suggest a combination of impaired mitochondrial and peroxisomal β-oxidation.