Disease Information for Maroteaux-Lamy Mucopolysaccharidosis VI Syndrome

Maroteaux Lamy Syndrome; Arylsulfatase-B Deficiency; MPS Disorder VI; MPS VI; Mucopolysaccharidosis VI; Polydystrophic Dwarfism; Mucopolysaccharidoses are a group of rare genetic disorders caused by the deficiency of one of ten specific lysosomal enzymes, resulting in an inability to metabolize complex carbohydrates (mucopolysaccharides) into simpler molecules; The accumulation of these large, undegraded mucopolysaccharides in the cells of the body causes a number of physical symptoms and abnormalities; Maroteaux-Lamy Syndrome (MPS Type VI) occurs in three types: a classic severe type, an intermediate type, and a mild type; The syndrome is characterized by a deficiency in the enzyme arylsulfatase B (also called N- acetylgalactosamine-4-sulfatase), which leads to an excess of dermatan sulfate in the urine; In general, growth retardation occurs from two to three years of age, with coarsening of facial features and abnormalities in the bones of hands and spine; Joint stiffness also occurs; The intellect is usually normal; ----------[NORD 2005]---------------

Maroeteaux-Lamy syndrome I; Arylsulfatase B deficiency syndrome; MPS VI syndrome; mucopolysaccharidosis type VI; polydystrophic dwarfism; An uncommon disorder of mucopolysaccharide metabolism due to a deficiency of the enzyme aryl sulphatase B; Clinical features are dwarfism, hearing loss, and progressive skeletal deformity (lumbar kyphosis, genu valgum), hydrocephalus (some cases), valvular disease of the heart and often enlargement of the liver and spleen; clouding of cornea; Hips severely involved; In the severe form onset is at 2 to 4 years, with death by the age of 20 years; Occurs in a severe and a mild form; The mild form, with onset at the age of 5 to 7 years, has a longer life expectancy; The intelligence is normal in both types; Both sexes affected--------- [whonamedit_com 2005]----------

Definition of Maroteaux-Lamy syndrome: A form of mucopolysaccharidosis with the clinical onset before age 3 that is characterized by an inability to metabolize dermatan sulfate; This leads to abnormal accumulation of dermatan sulfate, resulting in mild to severe changes in muscle, bone, skin, and other tissues, particularly the heart; Diagnosis is by examining leukocytes and cultured skin fibroblasts, or 24-hour urine collection to search for high levels of dermatan sulfate; There is no current treatment for the syndrome, but individual symptoms and problems may respond to physical therapy, medication, or surgery; Due to heart damage, death usually occurs before age 40; Also known as mucopolysaccharidosis type VI

---------[medicine_net 2005]----

(Edit)