Diagnostic Tests

Mucopolysaccharides Tlc Random Urine


Mucopolysaccharides Tlc Random Urine

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What is this test?

The mucopolysaccharidoses (MPS) are a group of disorders caused by the deficiency of any of the enzymes involved in the stepwise degradation of dermatan sulfate, heparan sulfate, keratan sulfate, or chondroitin sulfate (glycosaminoglycans; GAGs). Undegraded or partially degraded GAGs (also called mucopolysaccharides) are stored in lysosomes and excreted in the urine. Accumulation of GAGs in lysosomes interferes with normal functioning of cells, tissues, and organs resulting in the clinical features observed in MPS disorders. There are 11 known enzyme deficiencies that result in MPS. In addition, abnormal GAG storage is observed in multiple sulfatase deficiency and in I-cell disease. Finally, an abnormal excretion of GAGs in urine is observed occasionally in other disorders including active bone diseases, connective tissue disease, hypothyroidism, urinary dysfunction, and oligosaccharidoses. MPS are autosomal recessive disorders with the exception of MPS II, which follows an X-linked inheritance pattern. Affected individuals typically experience a period of normal growth and development followed by progressive disease involvement encompassing multiple systems. The severity and features vary, and may include facial coarsening, organomegaly, skeletal changes, cardiac abnormalities, and developmental delays. Interpretation is based upon pattern recognition of the specific sulfates detected by MS/MS and the qualitative analysis of their relative amounts of excretion. However, an abnormal MPS analysis is not sufficient to conclusively establish a specific diagnosis. It is strongly recommended to seek confirmation by an independent method, typically in vitro enzyme assay (available in either blood or cultured fibroblasts from a skin biopsy) or molecular analysis. MPSQN / Mucopolysaccharides (MPS), Quantitative, Urine, which does not include the analysis of the specific sulfates, can be appropriate for monitoring the effectiveness of treatment, such as a bone marrow transplant or enzyme replacement therapy. However, some clinicians will opt to perform the MPS screen, which allows for monitoring of not only the total amount of GAGs, but also the excretion of specific sulfates, as these may change in patients with an MPS disorder undergoing treatment.

Test Preparation

No special preparation is needed for Mucopolysaccharides Tlc Random Urine. Inform your doctor if you are on any medications or have any underlying medical conditions or allergies before undergoing Mucopolysaccharides Tlc Random Urine. Your doctor depending on your condition will give specific instructions.

Understanding your test results

GenderAge groupsValue
UNISEXAll age groups< 6.5 mg/mmol creatinine
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