Document Detail

Carnitine deficiency associated with ornithine transcarbamylase deficiency.
MedLine Citation:
PMID:  1908679     Owner:  NLM     Status:  MEDLINE    
An infant with X-linked recessive ornithine transcarbamylase deficiency is described who also had severe deficiency of plasma and liver carnitine during normoammonemic periods. Treatment with L-carnitine (100 mg/kg/day) for 12 months decreased the frequency of hospitalizations for hyperammonemia, although it did not alter his neurologic status. This report demonstrates that persistent carnitine deficiency may be present in patients with ornithine transcarbamylase deficiency even when plasma ammonia is normal. Carnitine evaluation and supplementation may be important in the treatment of patients with this metabolic disorder.
E Mayatepek; T W Kurczynski; C L Hoppel; W T Gunning
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric neurology     Volume:  7     ISSN:  0887-8994     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:    1991 May-Jun
Date Detail:
Created Date:  1991-10-01     Completed Date:  1991-10-01     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  196-9     Citation Subset:  IM    
Department of Pediatrics, Medical College of Ohio, Toledo 43699-0008.
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MeSH Terms
Amino Acid Metabolism, Inborn Errors / genetics*,  pathology,  therapy
Ammonia / blood
Carnitine / administration & dosage,  blood,  deficiency*
Enteral Nutrition
Follow-Up Studies
Liver / pathology
Ornithine Carbamoyltransferase Deficiency Disease*
Sex Chromosome Aberrations / genetics*,  pathology
X Chromosome*
Reg. No./Substance:
541-15-1/Carnitine; 7664-41-7/Ammonia

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

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