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.
Parameter(s) covered : 2
Report Frequency: Sample Daily by 4 pm; Report 4 days
Special Instruction: Provide brief clinical history.
Price : ₹ 5100.00
Parameters
- Control Value
- Patient Value