A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns.

@article{Debarber2014ABT,
  title={A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns.},
  author={Andrea E Debarber and Jenny Luo and Michal Star-Weinstock and Subhasish Purkayastha and Michael T. Geraghty and John Pei-wen Chiang and Louise S. Merkens and Anuradha S. Pappu and Robert D Steiner},
  journal={Journal of lipid research},
  year={2014},
  volume={55 1},
  pages={146-54}
}
Cerebrotendinous xanthomatosis (CTX) is a rare, difficult-to-diagnose genetic disorder of bile acid (BA) synthesis that can cause progressive neurological damage and premature death. Detection of CTX in the newborn period would be beneficial because an effective oral therapy for CTX is available to prevent disease progression. There is no suitable test to screen newborn dried bloodspots (DBS) for CTX. Blood screening for CTX is currently performed by GC-MS measurement of elevated 5α-cholestanol… CONTINUE READING

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