Observational analysis reveals no clinical phenotype for IDS variant in newborn screening patients, suggesting potential implications for treatment protocols.
Key Points
Biochemical findings indicate abnormal GAG levels in individuals with the IDS variant, yet they remain asymptomatic.
Among seven individuals reported, all had low iduronate-2-sulfatase activity but showed no signs of MPS II.
Newborn screening may unveil further cases, enhancing understanding of the clinical significance of the c.817C>T variant.
Current enzyme replacement therapy is not initiated in these asymptomatic individuals, indicating a need for guideline evaluation.
Cite This Study
Beauregard‐Lacroix et al. (2025) studied this question.