P453: Diagnostic intervals for patients with homocystinuria: Insights from a patient-reported data collection program

Genetics in Medicine Open 2026 Open access

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Authors: Kristen J. Skvorak, Brittany Parke, Danaé Bartke, Joshua J. Baker, Kimberly Chapman, Janet Thomas
DOI: 10.1016/j.gimo.2026.103945
Cited by: 0

Abstract

Homocystinurias (HCUs) are characterized by elevated levels of homocysteine in the urine and blood; including cystathionine beta-synthase (CBS) deficiency and remethylation disorders, such as severe MTHFR and cobalamin processing disorders. It is estimated that 50% of individuals with CBS deficiency (classical HCU) are missed by newborn screening (NBS), despite its inclusion in the Recommended Uniform Screening Panel (RUSP) in 2009. This gap is largely due to differences in state methionine cutoff thresholds, detection of B6-responsive cases, and inconsistent use of second tier testing.

Fields of Study & Subjects

Metabolism and Genetic Disorders Folate and B Vitamins Research Genomics and Rare Diseases

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103945–103945
Publication date
1 January 2026
Language
EN