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Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

Children usually present in the first year or two of life with:

  • features of Fanconi syndrome
  • failure to thrive
  • vomiting
  • lethargy
  • irritability
  • features of progressive renal tubular and glomerular damage
  • photophobia is common, associated with the deposition of crystals in the cornea and iris
  • often the hair becomes blond due to the inhibition of melanin formation

Milder adolescent and adult forms are known.

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