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May 1989

Chronic Myopathy With a Partial Deficiency of the Carnitine Palmityltransferase Enzyme

Author Affiliations

From the Department of Medicine (Drs Kieval and Weinblatt) and the Department of Pathology (Dr Sotrel), Beth Israel Hospital, and the Department of Rheumatology and Immunology, Brigham and Women's Hospital, Harvard Medical School (Drs Kieval and Weinblatt), Boston.

Arch Neurol. 1989;46(5):575-576. doi:10.1001/archneur.1989.00520410111034

• To date, chronic myopathy has not been reported (to our knowledge) to occur in carnitine palmityltransferase (CPT) deficiency, a disorder of muscle lipid metabolism. We describe two patients with CPT deficiency: a mother, who had a partial CPT deficiency associated with fixed proximal weakness but without rhabdomyolysis, and her son, who had a complete CPT deficiency (95% reduction in enzyme activity) and who suffered from classic attacks of exercise-induced rhabdomyolysis but had normal strength on recovery. Careful examination of family members of patients with complete CPT deficiency is suggested in order to identify clinically affected heterozygotes.

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