Maroteaux-Lamy Syndrome (MPS VI): Urine Monitoring (Total GAGs, DS)

Quantitative total glycosaminoglycans and dermatan sulfate (uDS) component GAGs can be used to monitor patients with with Maroteaux Lamy syndrome (MPS VI).

Turnaround Time

10 days

CPT Code(s)

83864 x2

Cost

$300

• Maroteaux-Lamy syndrome (MPSVI)

Maroteaux Lamy syndrome is characterized by short stature, coarse facies, corneal clouding, joint stiffness and contractures and splenomegaly. Other features may include inguinal hernia, obstructive airway disease, skeletal abnormalities and cardiac valve disease. The progression of Maroteaux Lamy syndrome varies among affected individuals, and intelligence is typically not affected.

For patients with an existing MPS diagnosis, measurement of glycosaminoglycans in urine can be used to monitor the effectiveness of treatments such as bone marrow translpant or enzyme replacement therapies.

Quantitative analysis of total glycosaminoglycans (GAGs) is performed using a 1,9-dimethylene blue (DMB) colorimetric reaction that is measured by spectrophotometry at a wavelength of 656 nm. GAG measurements are reported relative to the creatinine concentration in the patient's urine. Quantification of individual glycosaminoglycans -chondroitin sulfate (uCS), dermatan sulfate (uDS), heparan sulfate (uHS), and keratan sulfate (uKS)- is performed using liquid chromatography-tandem mass spectrometry.

At least 3 ml of a random catch sample of urine is needed for MPS urine monitoring.

Urine samples should be frozen after collection. Samples must be sent frozen via overnight delivery or courier, preferably on dry ice.