GENERALIZED PEROXISOMAL DISORDER IN MALE TWINS - FATTY-ACID COMPOSITION OF SERUM-LIPIDS AND RESPONSE TO N-3 FATTY-ACIDS

Male, identical twins presented with hypotonia, hypoglycaemia, dysmorp hic facies, feeding problems, discoloured stools, hepatomegaly, and ne phrolithiasis. Elevated blood levels of very long-chain fatty acids an d bile acids suggested a peroxisomal disorder. Plasmalogen biosynthesi s in cultured fibroblasts was reduced. Morphologically distinct peroxi somes were undetectable in liver. Twin 1 suffered from nephrocalcinosi s and severe infection, and died at 18 months of age. Twin 2 was blind and physically severely retarded with epilepsy, but survived up to th e age of 5 years. Studies of the fatty acid composition of serum lipid s showed barely detectable values of eicosapentaenoic (EPA) and docosa hexaenoic acid (DHA). During long-term treatment with these n - 3 fatt y acids, started at age 10 months, the fatty acid profile of the serum lipids was improved or normalized. Since n - 3 fatty acids are essent ial elements in normal development, notably of the nervous system, we suggest that treatment with EPA and DHA should be started as early as possible in general peroxisomal disorders.