Maroteaux-Lamy Syndrome
Maroteaux-Lamy Syndrome Causes
Maroteaux-Lamy syndrome is caused by a deficiency of the enzyme aryl sulphatase B.
Maroteaux-Lamy Syndrome Definition
Maroteaux-Lamy syndrome is a rare disorder of mucopolysaccharide metabolism due to a deficiency of the enzyme aryl sulphatase B, the enzyme necessary to break down the complex sugar glycosaminoglycan (formerly referred to as mucopolysaccharide). This complex sugar needs to be recycled and replayed to carry out its normal function of providing structure to skin, bones, organs, and airways. It belongs to a group of uncommon inherited diseases categorized as lysosomal storage disorders. Other names for Maroteaux-Lamy syndrome are mucolopolysaccharidosis VI and MPS VI.
Maroteaux-Lamy Syndrome Diagnosis
Diagnosis of Maroteaux-Lamy syndrome is confirmed by carrying out a number of relevant laboratory diagnostic tests like urine test and enzyme test.
Maroteaux-Lamy Syndrome Symptoms and Signs
There is no single symptom clear enough to identify Maroteaux-Lamy syndrome. An individual inflicted with Maroteaux-Lamy syndrome may develop and display a group of symptoms associated with the affected body part or organ. * Facial features Coarse facial features characterized by enlarged tongue and thickening of the lips and nose, large head, and protruding abdomen. * Neurological presentations 1. Hydrocephalus 2. Drowsiness 3. Headache 4. Behavioral changes 5. Hearing problems 6. Visual anomalies * Respiratory anomalies 1. Noisy breathing and snoring 2. Frequent chest and sinus infections * Bone and joint problems * Heart problems * Abdominal organ related problems like enlargement of the liver or spleen.
Maroteaux-Lamy Syndrome Treatment
There is no specific cure for Maroteaux-Lamy syndrome; however supportive management based on alleviating the effects of the symptom and correcting the existing symptoms can improve the quality of life and diminish the potential damage to organs and tissue by reducing the progression of the disease.