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NEUROLOGY 2007;68:698-700
© 2007 American Academy of Neurology

Phenotype of adult Refsum disease due to a defect in peroxin 7

M. A. Horn, MD, D. M. van den Brink, PhD, R.J.A. Wanders, PhD, M. Duran, PhD, B. T. Poll-The, MD, PhD, C. M.E. Tallaksen, MD, PhD, O. H. Stokke, MD, PhD, H. Moser, MD and O. H. Skjeldal, MD, PhD

From the Department of Neurology (M.A.H., C.M.E.T.), Ulleval University Hospital, Oslo; Departments of Clinical Chemistry (D.M.v.d.B., R.J.A.W., M.D.) and Pediatrics (B.T.P.-T.), Academic Medical Centre, University of Amsterdam, The Netherlands; Institute of Clinical Biochemistry (O.H. Stokke) and Department of Pediatrics (O.H. Skjeldal), University of Oslo and Rikshospitalet, Oslo, Norway; and Kennedy Krieger Institute and Departments of Neurology and Pediatrics (H.M.), Johns Hopkins University, Baltimore, MD.

Address correspondence and reprint requests to Dr. Morten A. Horn, Department of Neurology, Ulleval University Hospital, N-0407 Oslo, Norway; e-mail: rtho{at}uus.no.

The biochemical hallmark of adult Refsum disease (ARD) is an isolated deficiency in the breakdown of phytanic acid. This usually results from a PHYH gene defect, although some cases have been found to carry a PEX7 defect. We describe the phenotype of such a patient, indistinguishable from that of classic ARD. Hence, we propose the subdivision of ARD into type 1 and type 2, depending on which gene is defective.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the February 27 issue to find the title link for this article.

{dagger} Deceased.

The authors participated in the RDDPT project (Refsum’s Disease: Diagnosis, Pathology and Treatment, European Union contract no. QLG3-CT-2002-00696).

Disclosure: The authors report no conflicts of interest.

Received November 28, 2005. Accepted in final form November 6, 2006.