Morquio syndrome A (MPS IVA), GM1 gangliosidosis (Morquio B)
Morquio Syndrome (MPS IV): Urine Monitoring (Total GAGs, KS, CS)
Morquio Syndrome (MPS IV): Urine Monitoring (Total GAGs, KS, CS)
This test quantitatively measures total glycosaminoglycans (GAGs), chondroitin sulfate (uCS), and keratan sulfate (uKS) and can be used to monitor patients with Morquio syndrome (Mucopolysaccharidosis IV, MPS IV).
Clinical Information
Morquio syndrome is characterized by short stature and trunk, large head, mildly coarse facies, widely spaced teeth, corneal clouding, a bell-shaped chest, vertebral anomalies, joint stiffness and kyphoscoliosis. Other features may include inguinal hernia, hepatomegaly and hearing loss. There is a wide spectrum of those affected ranging from mild to severe. There is typically no cognitive impairment.
Technical Information
Total glycosaminoglycans (GAGs) are analyzed by 1,9-dimethylene blue (DMB) colorimetric reaction that is measured by spectrophotometry at a wavelength of 656nm. GAG measurements are reported relative to the creatnine concentration in the patient’s urine. Chondroitin sulfate and keratan sulfate are analyzed by liquid chromatography-tandem mass spectrometry (LC-MS/MS).
Specimen Requirements
A minimum of 2 mL random catch urine is required for this test.
Transport Instructions
Urine specimen should be frozen after collection and shipped frozen, preferably on dry ice
Associated Tests
- GM1 Gangliosidosis, Morquio Syndrome B (MPS IVB): Beta-galactosidase Enzyme Analysis
- Morquio Syndrome (MPS IV) Enzyme Panel
- Morquio Syndrome A (MPS IVA): N-Acetylgalactosamine-6-Sulfatase Enzyme Analysis
- Mucopolysaccharidosis (MPS) Enzyme Panel
- Mucopolysaccharidosis (MPS) Enzyme Panel (DBS)
- Storage Disease Panel
- Total Glycosaminoglycans (GAGs) Analysis
Connect With Our Experts
Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC