Maroteaux-Lamy Syndrome (MPS VI): Arylsulfatase B Enzyme Analysis

Clinical Information

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.

Technical Information

Arylsulfatase B enzyme activity is measured using p-Nitrocatechol sulfate substrate (spectrophotometry) (leukocytes, fibroblasts) or liquid chromatography-tandem mass spectrometry (LC-MS/MS) (DBS).

Specimen Requirements

• Accepted sample types for this test include dried blood spots (DBS), fibroblasts, and leukocytes.
• DBS: Approximately 75 uL of blood should be applied to each of the five circles on filter paper dried blood spot card. Allow blood to dry for at least 4 hours before shipping.
• Fibroblasts: Tissue sample should be stored in sterile culture media; cultured fibroblasts should be sent in two T25 flasks. Do NOT place tissue in formalin or formaldehyde. Do not freeze tissue.
• Leukocytes: A minimum of 5 mL whole blood (7-10 mL preferred) collected in a sodium heparin tube.

Transport Instructions

• DBS: Ship DBS card at ambient temperature.
• Fibroblasts: Ship tissue sample or cultured fibroblasts at ambient temperature
• Leukocytes: Whole blood should be shipped at ambient temperature. If leukocytes are being isolated at another laboratory, the pellet should be frozen after specimen processing and shipped frozen on dry ice.