L-CARNITINE SUPPLEMENTATION IN SYSTEMIC CARNITINE DEFICIENCY

Abstract

A 7 3/12 year old white male with systemic carnitine deficiency secondary to renal carnitine loss from Fanconi syndrome was studied on L-carnitine supplementation. A solution of L-carnitine, 10 g. per 100 ml., was supplied by Sigma-Tau, Inc., (723 North Beers Street, Holmdel, N.J. 07733). Following 5 months of supplementation with 250 mg. L-carnitine p.o., q.i.d., the patient had improvement in his muscle strength and ability to ambulate and climb steps. Mental retardation and convulsions, thought to be related to severe hypoglycemia during his initial Reye's syndrome-like presentation with carnitine deficiency, did not improve on carnitine therapy. The renal loss of electrolytes, calcium, phosphate, glucose and amnio acids, and serum electrolytes, calcium, phosphate, bicarbonate and blood PH were unchanged by the treatment with L-carnitine. In addition, scalp hair growth was noted for the first time in his life, and his hearing improved. Serum free carnitine increased from 3.46 to 10.7 μM and total carnitine from 9.58 to 24.7 μM during the extended carnitine supplementation; urine free carnitine loss also increased from 140 to 235 μM, as did total carnitine loss from 237 to 340 μM. Despite increased renal loss of carnitine during oral supplementation, the improved serum carnitine levels and increased muscle strength indicate that sufficient L-carnitine is retained to provide effective oral treatment.