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Journal of Child Neurology
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Carnitine-Deficient Myopathy as a Presentation of Tyrosinemia Type I

Andrea Nissenkom, MD

Metabolic-Neurogenetic Service, Wolfson Medical Center, Holon, Sackler Faculty of Medicine, Tel-Aviv University

Stanley H. Korman, MBBS, FRACP

Department of Clinical Biochemistry, Hadassah University Hospital, Jerusalem

Orna Vardi, MD

Child Development Center, Maccabi Health Services, Rishon Le-Zion, Israel

Arie Levine, MD

Pediatric Gastroenterology Unit, Tel-Aviv University

Zeev Katzir, MD

Pediatric Nephrology Unit, Tel-Aviv University

Ami Ballin, MD

Pediatrics Department, Wolfson Medical Center, Holon, Sackler Faculty of Medicine, Tel-Aviv University

Tally Lerman-Sagie, MD

Metabolic-Neurogenetic Service, Wolfson Medical Center, Holon, Sackler Faculty of Medicine, Tel-Aviv University, asagie{at}ccsg.tau.ac.il

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. ( J Child Neurol 2001;16:642-644).

Journal of Child Neurology, Vol. 16, No. 9, 642-644 (2001)
DOI: 10.1177/088307380101600903
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