MPS I er en heterogen og multisystemisk sygdom, der er karakteriseret ved mangel på α- L- iduronidase, en lysosomal hydrolase, der katalyserer hydrolysen for terminale α- L- iduroniske rester af dermatansulfat og heparansulfat.
MPS I is a heterogeneous and multisystemic disorder characterised by the deficiency of α -L-iduronidase, a lysosomal hydrolase which catalyses the hydrolysis of terminal α -L-iduronic residues of dermatan sulfate and heparan sulfate.