Journal of the Neurological Sciences, 1990, 98:1-11 1 Elsevier JNS 03350 Infantile phytanic acid storage disease, a disorder of peroxisome biogenesis: a case report R. J. A. Wanders ~, E. Boltshauser 2, B. Steinmann 2, M.A. Spycher 3, R.B.H, Schutgens ~, H. van den Bosch 4 and J.M. Tager 5 1Department of Pediatrics, University Hospital Amsterdam, Amsterdam (The Netherlands), Departments of 2Pediatrics and 3pathology, University Children's Hospital, Ziirich (Switzerland),4Departmentof Biochemistry, University of Utrecht, Utrecht (The Netherlands), and 5E.C. Slater Institute for Biochemical Research, University of Amsterdam, Amsterdam (The Netherlands) (Received 22 June, 1989) (Revised, received 12 March, 1990) (Accepted 12 March, 1990) SUMMARY The infantile and classic forms of phytanic acid storage disease belong to the newly recognized group of peroxisomal disorders. In this paper we report the full clinical, morphological and biochemical results in a patient with infantile phytanic acid storage disease. The results indicate a generalized loss of peroxisomal functions due to a deficiency of peroxisomes as demonstrated in hepatocytes and cultured skin fibro- blasts. Key words: Peroxisomes; Refsum's disease; Zellweger syndrome; Peroxisomal dis- order INTRODUCTION Two types of phytanic acid storage disease have been described. In both there is an accumulation of phytanic acid (3,7,11,15-tetramethylhexadecanoic acid), due to a deficient ~t-oxidation of this 20-carbon branched chain fatty acid which derives only from dietary sources. The classic form of phytanic acid storage disease, defined as a Correspondenceto: Dr. R.J.A. Wanders, Dept. of Pediatrics (F0-224), University Hospital Amster- dam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. 0022-510X/90/$03.50 © 1990 Elsevier Science Publishers B.V. (Biomedical Division)