Document Detail


Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency.
MedLine Citation:
PMID:  10653336     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
CONCLUSION: High rates of glucose suppressed neonatal lipolysis in this infant, but did not seem sufficient to avoid secondary carnitine deficiency as in severe forms of CATR. Therefore simultaneous use of insulin and glucose may be necessary to control neonatal lipolysis. Carnitine supplementation and the possible adverse effects of MCT systematically administrated, should be further assessed in patients with CATR.
Authors:
J M Nuoffer; P de Lonlay; C Costa; C R Roe; N Chamoles; M Brivet; J M Saudubray
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  European journal of pediatrics     Volume:  159     ISSN:  0340-6199     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:    2000 Jan-Feb
Date Detail:
Created Date:  2000-02-10     Completed Date:  2000-02-10     Revised Date:  2013-05-20    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  82-5     Citation Subset:  IM    
Affiliation:
Department of Metabolic Disease, Hôpital Necker-Enfants, Malades, Paris, France.
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MeSH Terms
Descriptor/Qualifier:
Carnitine / therapeutic use
Carnitine Acyltransferases / deficiency*
Dietary Supplements
Fatal Outcome
Female
Humans
Infant, Newborn
Lipid Metabolism, Inborn Errors / genetics*
Lipolysis
Phenotype
Sudden Infant Death / genetics*
Chemical
Reg. No./Substance:
541-15-1/Carnitine; EC 2.3.1.-/Carnitine Acyltransferases

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


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