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NEUROLOGY 1984;34:353
© 1984 American Academy of Neurology

Myoglobinuria and carnitine palmityltransferase (CPT) deficiency

Studies with malonyl-CoA suggest absence of only CPT-II

Carlo P. Trevisan, MD, Corrado Angelini, MD, Lorenza Freddo, MD, Grazia Isaya, MD and Andrea Martinuzzi, MD

From the Regional Center for Neuromuscular Diseases, Neurological Clinic, University of Padua, Padua, Italy.

A 23-year-old man suffered since adolescence from recurrent myoglobinuria. His ketone body production during fasting was normal. Muscle, liver, and platelet carnitine palmityltransferase (CPT) ranged from 4 to 27% of control by isotope exchange and backward assays. Forward CPT activity was 34% of control in liver, whereas in muscle and platelets it was either normal or absent depending on the experimental conditions. CPT residual activity was studied with malonyl-CoA, a physiologic inhibitor of CPT-I (sensitive fraction) in rat liver mitochondria. In our patient, the insensitive fraction was missing in muscle, liver, and platelets, while the sensitive fraction was increased considerably in the same tissues. Similar results were obtained in platelets of two other patients with CPT deficiency. Increased malonyl-CoA sensitive CPT and decreased malonyl-CoA insensitive CPT suggest absence of only the CPT-II isoenzyme in these patients.

Address correspondence and reprint requests to Dr. Trevisan, Universià di Padova, Clinica Neurologica, Via Giustiniani 5,35100 — Padova, Italy.

Supported by "Legato Dino Ferrari" and Italy C.N.R. grants.

Accepted for publication May 27, 1983.






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