Carnitine-deficient myopathy as a presentation of tyrosinemia type I

Andrea Nissenkorn, Tally Lerman-Sagie, Arie Levine, Zeev Katzir, Ami Ballin, Stanley H. Korman, Orna Vardi

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)642-644
Number of pages3
JournalJournal of Child Neurology
Issue number9
StatePublished - 2001
Externally publishedYes


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