Chronic Myopathy With a Partial Deficiency of the Carnitine Palmityltransferase Enzyme

• 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...

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Bibliographic Details
Published inArchives of neurology (Chicago) Vol. 46; no. 5; pp. 575 - 576
Main Authors Kieval, Raphael I, Sotrel, Ana, Weinblatt, Michael E
Format Journal Article
LanguageEnglish
Published Chicago, IL American Medical Association 01.05.1989
Subjects
Acyltransferases - deficiency
Adolescent
Biological and medical sciences
Carnitine O-Palmitoyltransferase - deficiency
Chronic Disease
Diseases of striated muscles. Neuromuscular diseases
Electromyography
Female
Humans
Male
Medical sciences
Middle Aged
Muscles - pathology
Muscular Diseases - complications
Muscular Diseases - genetics
Muscular Diseases - pathology
Neurology
Human
Nervous system diseases
Family study
Deficiency
Lipids
Rhabdomyolysis
Hereditary
Striated muscle
Carnitine palmitoyltransferase
Genetic disease
Pathology
Metabolic disorder
Myopathy
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Summary:• 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.
Bibliography:ObjectType-Case Study-3
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ISSN:0003-9942
1538-3687
DOI:10.1001/archneur.1989.00520410111034