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Mucopolysaccharidosis Type I (Hurler)

Prevalence: 1/100000

lysosomal

Official·OMIM:607014 Official·ORPHA579

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

Associated Genes

IDUAAlpha-L-Iduronidase

Chromosome 4Autosomal Recessive