Nissenkorn A, Korman S H, Vardi O, Levine A, Katzir Z, Ballin A, Lerman-Sagie T
Metabolic-Neurogenetic Service, Wolfson Medical Center, Holon, Israel.
J Child Neurol. 2001 Sep;16(9):642-4. doi: 10.1177/088307380101600903.
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.
