clinical features
Last reviewed 01/2018
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.