The information on this page is for informational purposes only and does not constitute medical advice. Consult your genetic counselor or specialist physician for treatment decisions.

Mucopolysaccharidosis Type I (Hurler)

Prevalence: 1/100000
lysosomal
Official·OMIM:607014Official·ORPHA579

Alpha-L-iduronidase enzyme deficiency due to IDUA gene mutations. Most severe MPS I form.

Associated Genes

IDUAAlpha-L-Iduronidase
Chromosome 4Autosomal Recessive