• Home
  • Doctors
  • Test
  • MUCOPOLYSACCHARIDOSIS (MPS) TYPE 1 (HURLER), QUANTITATIVE, BLOOD

MUCOPOLYSACCHARIDOSIS (MPS) TYPE 1 (HURLER), QUANTITATIVE, BLOOD

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.

  • Test Type:
  • Pre-test Information:
    Give brief clinical history
  • Report Delivery:
    Sample Daily by 4 pm; Report 4 days
  • Components:
    0

Sample Report