Document Detail

Chronic myopathy with a partial deficiency of the carnitine palmityltransferase enzyme.
MedLine Citation:
PMID:  2712755     Owner:  NLM     Status:  MEDLINE    
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.
R I Kieval; A Sotrel; M E Weinblatt
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Archives of neurology     Volume:  46     ISSN:  0003-9942     ISO Abbreviation:  Arch. Neurol.     Publication Date:  1989 May 
Date Detail:
Created Date:  1989-06-07     Completed Date:  1989-06-07     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0372436     Medline TA:  Arch Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  575-6     Citation Subset:  AIM; IM    
Department of Medicine, Beth Israel Hospital, Boston, MA.
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MeSH Terms
Acyltransferases / deficiency*
Carnitine O-Palmitoyltransferase / deficiency*
Chronic Disease
Middle Aged
Muscles / pathology
Muscular Diseases / complications*,  genetics,  pathology
Grant Support
Reg. No./Substance:
EC 2.3.-/Acyltransferases; EC O-Palmitoyltransferase
Comment In:
Arch Neurol. 1990 Jan;47(1):13   [PMID:  2328044 ]

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