Document Detail


Partial deficiency of carnitine palmityltransferase: physiologic and biochemical consequences.
MedLine Citation:
PMID:  7189839     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Deficiency of muscle carnitine palmityltransferase (CPT), first described in 1973 by DiMauro and associates, is proving to be one of the principal causes of recurrent paroxysmal myoglobinuria. In this disease, oxidation of lipid substrates is impaired, because CPT is necessary for the transport of long-chain fatty acids through the inner mitochondrial membrane. As a result, patients depend excessively on carbohydrate metabolism as a source of energy for muscular work.
Authors:
R B Layzer; R J Havel; M B McIlroy
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Neurology     Volume:  30     ISSN:  0028-3878     ISO Abbreviation:  Neurology     Publication Date:  1980 Jun 
Date Detail:
Created Date:  1980-08-28     Completed Date:  1980-08-28     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  627-33     Citation Subset:  AIM; IM    
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MeSH Terms
Descriptor/Qualifier:
Acyltransferases / deficiency*
Adolescent
Carbohydrate Metabolism
Carnitine O-Palmitoyltransferase / classification,  deficiency*,  metabolism
Fasting
Fatty Acids, Nonesterified / metabolism
Fibroblasts / enzymology,  ultrastructure
Glycogen / metabolism
Humans
Ketone Bodies / biosynthesis
Liver / metabolism
Male
Mitochondria, Muscle / enzymology,  ultrastructure
Muscles / enzymology*,  ultrastructure
Physical Exertion
Chemical
Reg. No./Substance:
0/Fatty Acids, Nonesterified; 0/Ketone Bodies; 9005-79-2/Glycogen; EC 2.3.-/Acyltransferases; EC 2.3.1.21/Carnitine O-Palmitoyltransferase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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