Document Detail

Carnitine-deficient myopathy as a presentation of tyrosinemia type I.
MedLine Citation:
PMID:  11575602     Owner:  NLM     Status:  MEDLINE    
Carnitine deficiency secondary to renal Fanconi's tubulopathy has been described in only a few inborn errors of metabolism: cystinosis, galactosemia, and Fanconi-Bieckel syndrome. We report a 27-month-old infant who presented with a sudden change in gait owing to proximal muscle weakness. The laboratory evaluation showed carnitine deficiency associated with Fanconi's tubulopathy. Eventually, tyrosinemia type I was diagnosed. Carnitine deficiency can contribute to the clinical picture of hepatorenal tyrosinemia and should therefore be evaluated and treated.
A Nissenkorn; S H Korman; O Vardi; A Levine; Z Katzir; A Ballin; T Lerman-Sagie
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of child neurology     Volume:  16     ISSN:  0883-0738     ISO Abbreviation:  J. Child Neurol.     Publication Date:  2001 Sep 
Date Detail:
Created Date:  2001-09-28     Completed Date:  2002-02-13     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  642-4     Citation Subset:  IM    
Metabolic-Neurogenetic Service, Wolfson Medical Center, Holon, Israel.
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MeSH Terms
Carnitine / deficiency*
Child, Preschool
Diagnosis, Differential
Fanconi Syndrome / diagnosis*
Muscle Hypotonia / diagnosis*
Tyrosinemias / diagnosis*
Reg. No./Substance:

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