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NEUROLOGY 1993;43:2044
© 1993 American Academy of Neurology

A new peroxisomal disease with impaired phytanic and pipecolic acid oxidation

C. Tranchant, MD, P. Aubourg, MD, M. Mohr, MD, F. Rocchiccioli, MD, Ch. Zaenker, MD and J. M. Warter, MD

From the Service de Neurologie II (Drs. Tranchant, Zaenker, and Warter), Institut d'anatomie pathologique (Dr. Mohr), Hôpitaux Universitaires de Strasbourg, Strasbourg; and Inserm U 342, Hôpital St. Vincent de Paul (Drs. Aubourg and Rocchiccioli), Paris, France.

Phytanic acid (PA) accumulates in patients with adult Refsum disease (ARD) and with peroxisomal disorders. In three related patients with ARD, PA levels were moderately increased in plasma, whereas phytanic oxidation was severely deficient in the fibroblasts. Two of these patients had a significant increase of pipecolic acid in plasma, a finding not reported in ARD, and a fourth related patient, a brother, died at age 17 from a progressive neurologic disorder with unusual clinical and neuropathologic (a spongy degeneration of the white matter) abnormalities for ARD. The first step of L-pipecolic acid degradation occurs in peroxisome. In these patients, the accumulation of PA could have resulted from an impaired capacity to degrade pristanic acid rather than PA. The activity of pristanic oxidase, measured in fibroblasts, was normal, as were two other peroxisomal enzymes, lignoceric acid oxidase and dihy-droxyacetone phosphate transferase. Since both mitochondria and peroxisomes are involved in PA {alpha}-oxidation, we propose that these four related patients presented various phenotypical variants of a novel peroxisomal disease with impairment of PA and pipecolic acid oxidation.

Address correspondence and reprint requests to Dr. Christine Tranchant, Service de Neurologie II, Hôpitaux Universitaires, 1 Place de l'Hôpital, F 67091 Strasbourg cédex, France.

Received December 15, 1992. Accepted for publication in final form February 22, 1993.




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