Maroteaux Lamy syndrome - Enzyme Analysis
|Disease name||Maroteaux Lamy syndrome (MPS VI)|
|Enzyme Name||Arylsulfatase B|
|Clinical info||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. Intelligence is typically not affected.|
|Indications||Arylsulfatase B is needed for the modification and removal of dermatan sulfate. Prenatal diagnosis and carrier testing via enzyme analysis are not available.|
|Methodology||Assays employ a 4-methylumbelliferyl substrate.|
|Associated Tests||Urinary excretion of dermatan sulfate is seen which can be assessed via MPS electrophoresis.
Arylsulfatase B enzyme analysis is also part of the MPS Enzyme Panel.
Molecular analysis of ARSB gene is also available for identification of the causative mutation within a family, carrier status and prenatal diagnosis.
|Specimen Requirements||Enzyme activity can be measured in leukocytes or cultured fibroblasts.|
|Transport||Please contact the laboratory before transporting tissue for enzyme assay. Fresh tissue for culture should be sent by courier or 24-hour delivery. Blood should be collected in a sodium heparin (green top) tube and shipped overnight.|
|Turnaround time||14 days
Cell culture can take 1-4 weeks and may lengthen turnaround time.
The Biochemical Lab provides diagnostic and screening tests for a variety of inherited metabolic disorders.