Carnitine-deficient myopathy as a presentation of tyrosinemia type I.
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.
Nissenkorn
A
A
Metabolic-Neurogenetic Service, Wolfson Medical Center, Holon, Israel.
Korman
S H
SH
Vardi
O
O
Levine
A
A
Katzir
Z
Z
Ballin
A
A
Lerman-Sagie
T
T
D002331:Carnitine / Q000172:deficiency*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005198:Fanconi Syndrome / Q000175:diagnosis*; D006801:Humans; D008297:Male; D009123:Muscle Hypotonia / Q000175:diagnosis*; D020176:Tyrosinemias / Q000175:diagnosis*
D002331:Carnitine