Glycosaminoglycans Urine Test

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The following is a list of what is included in the item above. Click the test(s) below to view what biomarkers are measured along with an explanation of what the biomarker is measuring.

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The Glycosaminoglycans Urine Test test contains 1 test.

The Glycosaminoglycans Urine Test is a crucial diagnostic tool for identifying mucopolysaccharidoses (MPSs), a group of inheritable disorders caused by deficiencies in lysosomal enzymes needed to degrade mucopolysaccharides, also known as glycosaminoglycans (GAGs). In individuals with MPSs, these GAGs are either undegraded or partially degraded and accumulate in lysosomes, eventually being excreted in the urine. The amount of GAGs excreted varies with age; infants typically secrete more than adults. Normal urine predominantly contains chondroitin sulfate, with minor amounts of heparin sulfate and dermatan sulfate.

Diagnosing MPSs through total GAG analysis in urine is the first step. Subsequently, a differential diagnosis based on the abnormal distribution of sulfated GAGs in the urine is essential. This is critical because various enzyme deficiencies leading to MPSs share similar clinical features, such as a chronic and progressive disease course, multi-system involvement, and organomegaly. These conditions also impact hearing, vision, cardiovascular function, and joint mobility. Notably, profound mental retardation is associated with Hurler, Hunter, and San Filippo syndromes (MPS types I, II, and III), whereas other MPSs and some mildly affected Hunter patients retain normal intellectual functioning. Thus, the Glycosaminoglycans Urine Test not only helps in diagnosing MPSs but also in guiding the specific identification of the type of MPS, which is crucial for appropriate management and treatment.

Reference Range(s)

 

0-1 year <36.0 mg/mmol
2-3 years <17.8 mg/mmol
4-5 years <14.8 mg/mmol
6-11 years <12.4 mg/mmol
12-13 years <9.5 mg/mmol
14-17 years <5.1 mg/mmol
>17 years <3.1 mg/mmol

Preferred Specimen(s)

20 mL (pediatric 4 mL) urine collected in a urine cup

Minimum Volume

10 mL (pediatric 2 mL)

Collection Instructions

An early morning specimen is preferred. Freeze immediately.
Include the patient age with the requisition.

Transport Container

Urine cup

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