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Neurology 2003;60:1351-1353
© 2003 American Academy of Neurology
Brief Communications

Carnitine palmitoyltransferase II deficiency

Molecular and biochemical analysis of 32 patients

T. Wieser, MD, M. Deschauer, MD, K. Olek, MD, T. Hermann, PhD and S. Zierz, MD

From the Klinik und Poliklinik für Neurologie (Drs. Wieser, Deschauer, and Zierz), Martin-Luther-Universität, Halle/Saale, Germany; Institut für Klinische Biochemie (Dr. Olek), Rheinischen Friedrich-Wilhelms-Universität, Bonn, Germany; and Computational Chemistry & Structure (Dr. Hermann), ANADYS Pharmaceuticals, Inc., San Diego, CA.

Address correspondence and reprint requests to Dr. Thomas Wieser, Klinik und Poliklinik für Neurologie, Martin-Luther-Universität Halle/Wittenberg, Ernst-Grube-Str. 40, 06097 Halle/Saale, Germany; e-mail: thomas.wieser{at}medizin.uni-halle.de

The authors investigated 32 patients with the muscle form of CPT II deficiency. Total carnitine palmitoyltransferase enzyme system (CPT) activity was normal but abnormally inhibited by malonyl-CoA, palmitoyl-CoA, and the detergents Triton X and Tween 20. Mutation analysis identified three described mutations (S113L, P50H, and F448L) and two novel mutations (M214T and Y479F). Using modeling techniques, a structure could be identified anchoring the protein in the membrane. Only one of the five mutations (Y479F) is located within this region.




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