MPS I Diagnosis
MPS I can be identified in two main ways:
- Through newborn screening
- When symptoms appear later in life
Finding MPS I as early as possible is important, because early diagnosis allows families and healthcare providers to take the next steps sooner.
Confirming the Diagnosis of MPS I
A diagnosis of MPS I is confirmed when both clinical signs and laboratory evidence are present, including:
- Very low or absent IDUA enzyme activity
- Elevated urine GAG levels
- And/or genetic testing showing changes in both copies of the IDUA gene
Both enzyme testing and urine testing are required to avoid confusion with conditions that mimic enzyme deficiency but do not cause disease.
Why Early Diagnosis Matters
Diagnosing mucopolysaccharidosis type I early can help:
Starttreatmentearlier
Improvelong-termhealthoutcomes
Supportbetterdiseasemanagement
Enhancequalityoflife
If MPS I is suspected, care from a specialized medical team is recommended.