Cerebrotendinous xanthomatosis: a treatable disease with juvenile cataracts as a presenting sign.

@article{Monson2011CerebrotendinousXA,
  title={Cerebrotendinous xanthomatosis: a treatable disease with juvenile cataracts as a presenting sign.},
  author={Dinelli M. Monson and Andrea E Debarber and Charles J Bock and George Anadiotis and Louise S. Merkens and Robert D Steiner and Ann U. Stout},
  journal={Archives of ophthalmology},
  year={2011},
  volume={129 8},
  pages={
          1087-8
        }
}
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder of bile acid synthesis. At least 50 different causative mutations have been identified in the CYP27A1 gene encoding for a sterol 27-hydroxylase important in bile acid synthesis. Sterol 27-hydroxylase deficiency leads to 5 -cholestanol accumulation in the blood and tissues of affected patients, including the brain, often leading to severe neurological dysfunction that can incapacitate patients by the fourth or fifth decade… CONTINUE READING
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