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Newborn screening (NBS) for cerebrotendinous xanthomatosis (CTX) is warranted because of the availability of a highly efficacious treatment with bile acids and because pre-symptomatic treatment leads to a better clinical outcome. The methodology for CTX NBS is well established and involves tandem mass spectrometry (MS/MS) quantification of a bile acid metabolite 5β-cholestane-3α,7α,12α,25-tetrol glucuronide (GlcA-tetrol). In this chapter, we provide a technical update on NBS for CTX by briefly reviewing the performance characteristics of current assays and showing that GlcA-tetrol can be well multiplexed with several other biomarkers and enzymatic products facilitating screening for several additional diseases simultaneously. This makes it possible to add CTX NBS to NBS panels without the need for additional instrumentation and extended NBS workflow times. We also report the first identification of a CTX patient in a prospective NBS pilot study (ScreenPlus). The patient was biochemically and genetically diagnosed with CTX, and bile acid treatment was initiated. This is an important milestone in advancing CTX NBS for widespread implementation.

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Update on Newborn Screening for Cerebrotendinous Xanthomatosis (CTX)

  • 章节

  • 发表日期：

    2025年

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  • Andrea E. DeBarber,
  • Michael H. Gelb,
  • Monica Martin,
  • Hannah McNeight,
  • Joseph Orsini,
  • Nicolas Szabo-Fresnais,
  • Frederic M. Vaz,
  • Melissa Wasserstein,
  • Zitao Zhou

摘要

Newborn screening (NBS) for cerebrotendinous xanthomatosis (CTX) is warranted because of the availability of a highly efficacious treatment with bile acids and because pre-symptomatic treatment leads to a better clinical outcome. The methodology for CTX NBS is well established and involves tandem mass spectrometry (MS/MS) quantification of a bile acid metabolite 5β-cholestane-3α,7α,12α,25-tetrol glucuronide (GlcA-tetrol). In this chapter, we provide a technical update on NBS for CTX by briefly reviewing the performance characteristics of current assays and showing that GlcA-tetrol can be well multiplexed with several other biomarkers and enzymatic products facilitating screening for several additional diseases simultaneously. This makes it possible to add CTX NBS to NBS panels without the need for additional instrumentation and extended NBS workflow times. We also report the first identification of a CTX patient in a prospective NBS pilot study (ScreenPlus). The patient was biochemically and genetically diagnosed with CTX, and bile acid treatment was initiated. This is an important milestone in advancing CTX NBS for widespread implementation.