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Case Reports
. 2001 Sep;16(9):642-4.
doi: 10.1177/088307380101600903.

Carnitine-deficient myopathy as a presentation of tyrosinemia type I

A Nissenkorn  1 , S H Korman, O Vardi, A Levine, Z Katzir, A Ballin, T Lerman-Sagie
Affiliations
Case Reports

Carnitine-deficient myopathy as a presentation of tyrosinemia type I

A Nissenkorn et al. J Child Neurol. 2001 Sep.

Abstract

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.

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