P062: Presentation and diagnosis of adolescent-onset HMBS-related leukoencephalopathy
Conclusion:This study identifies a significant association of MTHFR polymorphisms (C677T and A1298C), homocysteine and cysteine levels, in DS patients with or without comorbidities (hypothyroidism and/or CHD).Our findings suggest relevance of these genetic and biochemical markers with predictive potential for comorbidity risk assessment, supporting the potential for early, targeted interventions.
Authors
- B. Hoyle
- Amy Tara Waldman (ORCID: https://orcid.org/0000-0002-1054-0815)
- Mariko L. Bennett (ORCID: https://orcid.org/0000-0002-1642-2887)
- Nicole Engelhardt (ORCID: https://orcid.org/0000-0003-0499-0884)
- Kim T. Ng
- Katherine M. Szigety
Institutions
- Children's Hospital of Philadelphia (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102906
- Primary Topic
- RNA regulation and disease
- Type
- article
- Field-Weighted Citation Impact
- 0.00