P560: Implementing homocysteine into first-tier mass spectrometry tests in newborn screening for detection of homocystinurias in New York State
Homocystinurias (HCU) are a group of inherited disorders of homocysteine (Hcy) metabolism associated with high blood level of total Hcy (tHcy). The most common causes of HCU include reduced activity of the enzyme cystathionine beta-synthase (CBS) and defective remethylation to methionine due to cobalamin (vitamin B12) or folate deficiencies. The New York State (NYS) Newborn Screening (NBS) Program introduced mass spectrometry (MS) to screen for HCU via measurement of methionine (Met) levels in 2002 and made continuous efforts to optimize the screening algorithm, aiming to identify HCU in pre-symptomatic newborns.
Authors
- Carlos A. Saavedra‐Matiz
- Joseph J. Orsini (ORCID: https://orcid.org/0000-0002-7081-6027)
- Konstantinos Pétritis (ORCID: https://orcid.org/0000-0001-8660-8532)
- Matthew Wojcik
- C. Austin Pickens (ORCID: https://orcid.org/0000-0003-1632-5777)
- Jing Xiao (ORCID: https://orcid.org/0009-0002-6516-1916)
- Michele Caggana
Institutions
- New York State Department of Health (US)
- Wadsworth Center (US)
- The Centers (US)
- Centers for Disease Control and Prevention (KE)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102403
- Primary Topic
- Folate and B Vitamins Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00