Peroxisomal bifunctional enzyme deficiency with

Peroxisomal disorders include single enzyme defects and de- fects of peroxisomal fatty acid oxidation enzymes. Peroxisomal bifunctional enzyme complex deficiency is a recently recognized abnormality of fatty acid metabolism. We present one patient with peroxisomal bifunctional enzyme deficiency in association with a flecked retina. This clinical association has only been previously reported once. The finding of a flecked retina in an in- fant presenting with hypotonia, seizures, and failure to thrive is highly sug- gestive of peroxisomal bifunctional enzyme complex deficiency.