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Chronic Myopathy With a Partial Deficiency of the Carnitine Palmityltransferase Enzyme

Chronic Myopathy With a Partial Deficiency of the Carnitine Palmityltransferase Enzyme Abstract • 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. References 1. DiMauro S, Melis-DiMauro PM: Muscle carnitine palmityltransferase deficiency and myoglobinuria . Science 1973;182:929-931.Crossref 2. Cornelio F, DiDonato S: Myopathies due to enzyme deficiencies . J Neurol 1985;232:329-340.Crossref 3. Scholte HR, Hulsmann WC, Luyt-Houwen IE, et al: Carnitine palmityltransferase deficiency . Biochem Soc Trans 1985;13:643-645. 4. DiMauro S, Trevisan C: Carnitine palmityltransferase deficiency: A review , in Schotland DL (ed): Disorders of the Motor Unit . New York, John Wiley & Sons Inc, 1982, pp 657-666. 5. DiMauro S, Trevisan C, Hays A: Disorders of lipid metabolism in muscle . Muscle Nerve 1980;3:369-388.Crossref 6. Brownell AKW, Severson DL, Thompson D, et al: Cold-induced rhabdomyolysis in carnitine palmityltransferase deficiency . Can J Neurol Sci 1979;6:367-370. 7. Bertorini T, Yeh Y, Trevisan C, et al: Carnitine palmityltransferase deficiency: Myoglobinuria and respiratory failure . Neurology 1980;30:263-271.Crossref 8. Patten BM, Wood JM, Harati Y, et al: Familial recurrent rhabdomyolysis due to carnitine palmityltransferase deficiency . Am J Med 1979;67:167-171.Crossref 9. Jennekens FG, Scholte HR, Stinis JT, et al: Carnitine palmityltransferase deficiency: Variations in clinical expression differences between CPTI and II, and mode of inheritance , in Busch HF, Jennekens FG, Scholte HR (eds): Mitochondria and Muscular Diseases . Beetsterzwaag, the Netherlands, Mefar, 1981, pp 213-218. 10. DiMauro S, Eastwood AB: Disorders of glycogen and lipid metabolism . Adv Neurol 1977;17:123-142. 11. Angelini C, Freddo L, Battistella AP, et al: Carnitine palmityltransferase deficiency: Clinical variability, carrier detection, and autosomal recessive inheritance . Neurology 1981;31:883-Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

Chronic Myopathy With a Partial Deficiency of the Carnitine Palmityltransferase Enzyme

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Publisher
American Medical Association
Copyright
Copyright © 1989 American Medical Association. All Rights Reserved.
ISSN
0003-9942
eISSN
1538-3687
DOI
10.1001/archneur.1989.00520410111034
Publisher site
See Article on Publisher Site

Abstract

Abstract • 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. References 1. DiMauro S, Melis-DiMauro PM: Muscle carnitine palmityltransferase deficiency and myoglobinuria . Science 1973;182:929-931.Crossref 2. Cornelio F, DiDonato S: Myopathies due to enzyme deficiencies . J Neurol 1985;232:329-340.Crossref 3. Scholte HR, Hulsmann WC, Luyt-Houwen IE, et al: Carnitine palmityltransferase deficiency . Biochem Soc Trans 1985;13:643-645. 4. DiMauro S, Trevisan C: Carnitine palmityltransferase deficiency: A review , in Schotland DL (ed): Disorders of the Motor Unit . New York, John Wiley & Sons Inc, 1982, pp 657-666. 5. DiMauro S, Trevisan C, Hays A: Disorders of lipid metabolism in muscle . Muscle Nerve 1980;3:369-388.Crossref 6. Brownell AKW, Severson DL, Thompson D, et al: Cold-induced rhabdomyolysis in carnitine palmityltransferase deficiency . Can J Neurol Sci 1979;6:367-370. 7. Bertorini T, Yeh Y, Trevisan C, et al: Carnitine palmityltransferase deficiency: Myoglobinuria and respiratory failure . Neurology 1980;30:263-271.Crossref 8. Patten BM, Wood JM, Harati Y, et al: Familial recurrent rhabdomyolysis due to carnitine palmityltransferase deficiency . Am J Med 1979;67:167-171.Crossref 9. Jennekens FG, Scholte HR, Stinis JT, et al: Carnitine palmityltransferase deficiency: Variations in clinical expression differences between CPTI and II, and mode of inheritance , in Busch HF, Jennekens FG, Scholte HR (eds): Mitochondria and Muscular Diseases . Beetsterzwaag, the Netherlands, Mefar, 1981, pp 213-218. 10. DiMauro S, Eastwood AB: Disorders of glycogen and lipid metabolism . Adv Neurol 1977;17:123-142. 11. Angelini C, Freddo L, Battistella AP, et al: Carnitine palmityltransferase deficiency: Clinical variability, carrier detection, and autosomal recessive inheritance . Neurology 1981;31:883-Crossref

Journal

Archives of NeurologyAmerican Medical Association

Published: May 1, 1989

References