TRIAL OF DOCOSAHEXAENOIC ACID SUPPLEMENTATION ON A JAPANESE PATIENT WITH A PEROXISOME BIOGENESIS DEFECT

A female Japanese patient diagnosed with peroxisome biogenesis; defect (PBD), who had hypotonia and cranioifacial dysmorphism, was given sup plementation of docosahexaenoic acid (DHA). Accumulation of very long chain fatty acids was revealed, and a diagnosis of P8D was made at 2 m onths of age because of the absence of peroxisomes, a defect in peroxi somal beta-oxidation enzymes and a decreased level of DHA in the eryth rocytes. Supplementation of DHA was introduced at 3 months of age. For the first several months, psychomotor development was fairly good, Th e patient could laugh, brush off a blanket and play with toys al 6 mon ths of age. However, neurological regression and convulsions occurred after 7 months of age. After recurrent respiratory infections and dist urbance of the circadian rhythm, the patient died of liver failure and disseminated intravascular coagulopathy at 20 months of age, DHA may have a favorable effect un the early development of patients with PBD, hut neurological deterioration cannot be prevented. Patients with a m ilder phenotype would be better candidates for DHA supplementation.