Clinical features
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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