Mucopolysaccharides Type-VI - Qualitative, Urine

Blood

Report in 48Hrs

At Home

No Fasting Required

Details

Detects mucopolysaccharides.

₹622₹888

30% OFF

Mucopolysaccharides Type-VI - Qualitative Urine Test Guide

Why is it done?
- Detects the presence of glycosaminoglycans (keratan sulfate and dermatan sulfate) in urine, which are elevated in mucopolysaccharidosis Type VI (Maroteaux-Lamy syndrome)
- Screens for lysosomal storage disorders, particularly inherited conditions affecting mucopolysaccharide metabolism
- Investigates symptoms such as skeletal abnormalities, hepatosplenomegaly, corneal clouding, cardiac valve disease, and developmental delay
- Aids in diagnosis of arylsulfatase B deficiency, the enzymatic defect underlying MPS VI
- Used as initial screening in neonatal screening programs for metabolic disorders in high-risk populations
- Performed to evaluate family members of confirmed MPS VI patients for carrier status or disease manifestation
Normal Range
- Negative or Absent: Normal result indicates no detectable mucopolysaccharides (glycosaminoglycans) in urine
- Typical reference value: Less than 10 mg/g creatinine or "Not detected" on qualitative analysis
- Trace amounts: May be seen in healthy individuals and is generally considered normal
- Units of measurement: Qualitative (presence/absence) or semi-quantitative (trace/1+/2+/3+/4+)
- Positive or Present: Indicates elevated levels of mucopolysaccharides, typically keratan sulfate and dermatan sulfate, suggestive of MPS VI or other mucopolysaccharidosis types
Interpretation
- Negative/Absent Result: Rules out mucopolysaccharidosis Type VI in most cases; consistent with normal metabolism of glycosaminoglycans
- Trace/Borderline Result: May require repeat testing; consider clinical symptoms and enzyme assay confirmation; not diagnostic but warrants further investigation
- Positive Result (1+ to 4+): Suggests mucopolysaccharidosis; greater levels of elevation correlate with disease severity; requires confirmatory testing with enzyme assays and genetic analysis
- Specific Pattern Identification: MPS VI typically shows elevation of both keratan sulfate and dermatan sulfate; specific glycosaminoglycan patterns help differentiate between MPS types
- Factors Affecting Results: Age of patient (infantile vs. intermediate vs. attenuated forms), disease progression, concurrent renal function, urinary tract infections, specimen collection method, and timing of collection relative to disease onset
- Clinical Significance: This qualitative test serves as an excellent screening tool with high sensitivity; positive results are highly suggestive of MPS VI when combined with clinical presentation; negative results have high negative predictive value
Associated Organs
- Primary Organ Systems: Skeletal system, cardiovascular system, respiratory system, nervous system, and connective tissue; kidneys (for urinary excretion of glycosaminoglycans)
- Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome): Autosomal recessive lysosomal storage disorder caused by arylsulfatase B deficiency; leads to accumulation of dermatan sulfate and keratan sulfate in tissues and urine
- Associated Clinical Manifestations: Severe short stature, progressive skeletal deformities (dysostosis multiplex), hepatosplenomegaly, cardiac valve disease (mitral and aortic), corneal clouding and visual impairment, hearing loss, respiratory complications, and normal or near-normal intellect
- Related Conditions: Other mucopolysaccharidosis types (MPS I, II, III, IV, VII, IX), mucolipidosis, sialidosis, and other lysosomal storage disorders
- Potential Complications of Abnormal Results: Progressive neuroskeletal deterioration, life-threatening cardiac arrhythmias, sudden cardiac death from valve disease, respiratory failure, vision loss, spinal cord compression, and reduced life expectancy if untreated (infantile form typically fatal by second decade)
- Organ Involvement Patterns: Multi-system disease with progressive nature; glycosaminoglycan deposition in lysosomes causes cellular dysfunction and tissue damage; accumulation begins in utero but clinical symptoms emerge gradually
Follow-up Tests
- Enzyme Assay (Arylsulfatase B Activity): Essential confirmatory test performed on leukocytes or fibroblasts; definitively confirms diagnosis by demonstrating deficient enzyme activity
- Genetic Testing (DNA Sequencing): Identifies ARSB gene mutations; determines specific mutations for family planning and carrier detection; useful for prenatal diagnosis
- Quantitative Urine Glycosaminoglycan Analysis: Measures specific levels of keratan sulfate and dermatan sulfate; useful for disease monitoring and response to treatment assessment
- Imaging Studies: Skeletal survey radiographs to assess dysostosis multiplex, spine MRI for myelopathy evaluation, cardiac echocardiography for valve disease assessment, ophthalmology evaluation for corneal clouding
- Hematologic and Biochemical Tests: Peripheral blood smear for abnormal white blood cells, liver and renal function tests, comprehensive metabolic panel to monitor for complications and treatment effects
- Mucopolysaccharide Panel: Screens for other MPS types if initial results inconclusive; may perform thin-layer chromatography or high-performance liquid chromatography (HPLC) for glycosaminoglycan characterization
- Monitoring Schedule: Initial enzyme assay and genetic testing upon diagnostic suspicion; repeat urine mucopolysaccharide testing annually or semi-annually to monitor disease progression; more frequent monitoring if undergoing disease-modifying therapy
- Carrier Screening: Family members should undergo enzyme assay and genetic testing; urine screening may be performed for relative risk assessment
Fasting Required?
- Fasting: No
- This is a qualitative urine test and does not require fasting; patient may eat and drink normally before specimen collection
- Specimen Collection Requirements: Random or 24-hour urine collection in sterile container; random specimen often preferred for screening; ensure proper collection technique to avoid contamination
- Medications: Continue all regular medications unless otherwise instructed; no specific medications need be held; patients receiving enzyme replacement therapy (ERT) such as galsulfase should continue treatment as scheduled
- Additional Preparation: Normal hydration is acceptable; avoid urine retention for prolonged periods; collect specimen in morning if possible for concentrated sample; inform laboratory of any recent urinary tract infections or hematuria
- Special Instructions: Ensure specimen is properly labeled with patient identification, date, and time of collection; transport to laboratory within 2-4 hours or refrigerate if delay anticipated; use preservative-free tube for most assays unless specified by laboratory

How our test process works!