title: Carnitine-deficient myopathy as a presentation of tyrosinemia type I.
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.
authors.affiliation: Metabolic-Neurogenetic Service, Wolfson Medical Center, Holon, Israel.
authors.forename: A
authors.initials: A
authors.lastname: Nissenkorn
authors.forename: S H
authors.initials: SH
authors.lastname: Korman
authors.forename: O
authors.initials: O
authors.lastname: Vardi
authors.forename: A
authors.initials: A
authors.lastname: Levine
authors.forename: Z
authors.initials: Z
authors.lastname: Katzir
authors.forename: A
authors.initials: A
authors.lastname: Ballin
authors.forename: T
authors.initials: T
authors.lastname: Lerman-Sagie
mesh_terms: 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*
chemical_list: D002331:Carnitine