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Primary systemic carnitine dehciency. II. Renal handling of carnitine

Department of Neurology and Neuromuscular Disease Research Center, (Drs. Engel and Rebouche) and the Department of Nephrology (Dr. Wilson), Mayo Clinic and Mayo Foundation, Rochester, MN, the Department of Endocrinology, (Dr. Glasgow), Children's Hospital National Medical Center, Washington, DC, the Department of Pediatrics (Dr. Romshe), Ohio State Univeresity, Columbus, OH, and the Department of Neurology and Pediatrics (Dr. Cruse), Cleveland Clinic, Cleveland, OH.

Renal tubular reabsorption rates, reabsorptive maxima, and apparent renal plasma excretory thresholds for carnitine were determined in four children with primary systemic carnitine deficiency (SCD), in two of the mothers of these children, in one patient with muscle carnitine deficiency (MCD), and in seven controls. In SCD the observed values were well below those found in six of seven controls, but one control, a healthy 20-year-old woman with normal muscle carnitine level, also exhibited a renal carnitine leak. In the two mothers of patients with SCD and in the case of MCD some of the parameters of the renal handling of carnitine were slightly altered. Tubular secretion of short-chain acylcarnitines was noted in patients and controls at high plasma free carnitine levels. Augmented excretion of short-chain acylcarnitines occurred at lower plasma free carnitine levels in the patients with SCD than in the other subjects. Free and short-chain acyl-carnitines may compete for the same renal reabsorptive site. A renal defect cannot fully account for primary SCD but may contribute to the carnitine depletion in this disorder.

Address correspondence and reprint requests to Dr. Engel, Mayo Clinic and Mayo Foundation, Rochester, MN 55901.

This work was supported in part by a & search Center Grant from the Muscular Dystrophy Association and by NIH Research Grants NS 6277 and AM 27451.

Accepted for publication October 21, 1980.

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