Fanconi syndrome type 3 is an autosomal dominant disorder caused by mutations of the EHHADH gene. As all proximal tubular disorders it is characterized by aminoaciduria, glucosuria, and hyperphosphaturia.
Fanconi renotubular syndrome | ||||
Autosomal dominant idiopathic Fanconi syndrome | ||||
Fanconi renotubular syndrome 1 | ||||
Fanconi renotubular syndrome 2 | ||||
Fanconi renotubular syndrome 3 | ||||
EHHADH | ||||
1. |
Tolaymat A et al. (1992) Idiopathic Fanconi syndrome in a family. Part I. Clinical aspects. |
2. |
Klootwijk ED et al. (2014) Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome. |