Supporting the biochemical diagnosis of one of the mucopolysaccharidoses: types I, II, III, IV, VI or VII.
ADVISORY INFORMATION: This test alone is not appropriate for the diagnosis of a specific mucopolysaccharidosis (MPS). Follow-up enzymatic testing must be performed to confirm a diagnosis of an MPS.
This test is used to aid in the diagnosis and monitoring of patients with mucopolysacchariodoses (MPS) types I, II, III, IV, VI, and VII.
Accumulation of undegraded glycosaminoglycans (GAGs) leads to progressive cellular dysfunction and results in the typical clinical features seen with this group of disorders.
Dermatan sulfate (DS), heparan sulfate (HS), keratan sulfate (KS) and chondroitin-6-sulfate (C6S) are markers for a subset of MPS.
DS and HS in urine are markers for MPS types I, II, III, VI and VII.
KS in urine is a marker for MPS IVA and MPS IVB.
C6S in urine is a marker for MPS IVA and MPS VII.
< or = 1.00 mg/mmol creatinine
< or =4 years: < or = 0.50 mg/mmol creatinine
> or =5 years: < or = 0.25 mg/mmol creatinine
< or =24 months: < or = 10.00 mg/mmol creatinine
25 months-10 years: < or = 2.50 mg/mmol creatinine
> or =11 years: < or = 1.50 mg/mmol creatinine
< or =12 months: < or = 2.00 mg/mmol creatinine
13-24 months: < or = 1.50 mg/mmol creatinine
25 months-4 years: < or = 1.00 mg/mmol creatinine
5-18 years: < or = 0.50 mg/mmol creatinine
> or =19 years: < or = 0.30 mg/mmol creatinine
Elevations of dermatan sulfate and/or heparan sulfate and/or keratan sulfate and/or chondroitin-6-sulfate may be indicative of one of the mucopolysaccharidoses: types I, II, III, IV, VI, or VII.
Elevations of any or all sulfate species may be indicative of multiple sulfatase deficiency or mucolipidosisII/III.
Rarely, an elevation of keratan sulfate may be indicative of alpha-fucosidosis.