BioMaroteaux-Lamy - Biomarker for Maroteaux-Lamy disease
Maroteaux-Lamy disease (MPS VI) is a lysosomal storage disease inherited in an autosomal recessive pattern.
New methods, such as mass-spectrometry, provide a good chance to characterize specific metabolic alterations in the blood (plasma) of affected patents that in the future will allow us to diagnose the disease earlier, with higher sensitivity and specificity. Therefore it is the goal of this study to develop new biochemical markers from the plasma of affected patients, helping to benefit the patient with an early diagnosis and thereby with earlier treatment.
The responsible mutations lie in ARSB (5q11-q13), the gene that encodes the enzyme arylsulfatase B. The phenotype results from defective dermatan sulfate breakdown with lysosomal accumulation. This accumulation of glycosaminoglycans is responsible for the widespread signs and symptoms found in this disease. Bone destruction in shoulders, hips, and the skull is often seen by the second decade of life and may later become evident in the knees and spine. Early growth may be normal but eventually slows, resulting in short stature. Dysplasia of bones comprising these joints leads to stiffness and restricted movement. The face is dysmorphic with coarse features. Bone dysplasia and facial dysmorphism may be seen at birth.
Myelopathy and even tetraplegia can result from vertebral compression. Intelligence is often normal although more severely affected individuals may have some cognitive defects due to impaired vision and hearing. Hepatosplenomegaly is common and compromised respiratory function can result in reduced physical stamina. The tongue is usually enlarged. Accumula-tion of dermatan sulfate in heart valves may produce insufficiency or restriction of outflow. A diagnosis of Maroteaux-Lamy disease can be confirmed by screening for the common genet-ic mutations or measuring the level of the arylsulfatase B enzyme activity in a blood sample -- a test that has 100 percent accuracy. Once Maroteaux-Lamy disease is diagnosed, testing of all family members and consultation with a professional geneticist is recommended. Carriers are most reliably identified via genetic mutation analysis.