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Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment

Andrea E DeBarber1, Limor Kalfon2, Ayalla Fedida2,3

  • 1Physiology and Pharmacology Department, Oregon Health and Science University (OHSU), Portland, OR debarber@ohsu.edu falikmd.genetics@gmail.com.

Journal of Lipid Research
|August 24, 2018
PubMed

Insights

Newborn screening for Cerebrotendinous xanthomatosis (CTX) using a two-tier dried bloodspot test shows high accuracy. Early CTX detection enables effective treatment, preventing disease progression.

Area of Science:

  • Biochemistry
  • Genetics
  • Neonatal screening

Background:

  • Cerebrotendinous xanthomatosis (CTX) is a rare, progressive metabolic leukodystrophy.
  • Delayed diagnosis of CTX often hinders effective early intervention, impacting patient outcomes.
  • Identifying CTX at birth is crucial for a functional cure.

Purpose of the Study:

  • To evaluate a two-tier dried bloodspot (DBS) screening test for Cerebrotendinous xanthomatosis (CTX) in a high-risk Israeli newborn population.
  • To identify CTX-causing founder genetic variants within specific ethnic groups.
  • To assess the feasibility of newborn screening for CTX.

Main Methods:

  • Pilot study involving archived and prospectively collected newborn DBS samples.
  • First-tier screening using flow injection analysis-tandem mass spectrometry (FIA-MS/MS).
  • Second-tier confirmation using liquid chromatography-tandem mass spectrometry (LC-MS/MS).
  • Analysis of CYP27A1 gene variants in Druze and Moroccan Jewish populations.

Main Results:

  • The two-tier DBS test demonstrated 100% sensitivity for CTX detection.
  • FIA-MS/MS showed a low false-positive rate (0.1-0.5%), while LC-MS/MS achieved 0% false positives (100% specificity).
  • 5β-cholestane-3α,7α,12α,25-tetrol-3-O-β-D-glucuronide was identified as the primary bile-alcohol marker.
  • A 1:30 carriership frequency for the c.355delC CYP27A1 variant was found in Druze newborns, estimating CTX prevalence at 1:3,600.

Conclusions:

  • A two-tier DBS screening approach is feasible for early detection of CTX in newborns.
  • The study identified specific genetic variants and disease markers relevant to the screened population.
  • Findings support the implementation of large-scale prospective pilot studies for CTX newborn screening.

Keywords:
bile acids and saltsdiagnostic toolsinborn errors of metabolismmass spectrometrystorage diseases

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