10 mL (7.5 mL min.) whole blood from 3 Lavender Top (EDTA) tubes OR Green Top (Sodium Heparin) tubes. Ship refrigerated. DO NOT FREEZE. Provide brief clinical history.
Sample Daily by 4 pm; Report 4 days
Hurler Syndrome is Type I MPS due to deficient enzyme activity of Alpha-L-Iduronidase. Dermatan sulphate and Heparan sulphate are excreted in urine. It is an autosomal recessive disorder. Patients present with cognitive degeneration, hepatosplenomegaly, skeletal dysplasia, corneal clouding, coarse facies ; cardiovascular involvement. Clinical onset is infantile or intermediate. An important hematologic finding is vacuolated lymphocytes.