Mucopolysaccharidosis type II Hunter syndrome- severe form
Mucopolysaccharidosis type II Hunter syndrome- severe form Causes
A deficiency of the enzyme idunorate-2-sulfatase (l2S) causes both the mild and severe form of the disease.
Mucopolysaccharidosis type II Hunter syndrome- severe form Definition
Mucopolysaccharidosis Type II, called Hunter syndrome, has a severe form, Type A, which is usually found in children aged 18-36 months. Also considered the classic form, affected children may survive into the second and third decades of life.
Mucopolysaccharidosis type II Hunter syndrome- severe form Diagnosis
A child's appearance along with other symptoms such as an enlarged spleen and ivory-colored skin lesions can suggest the presence of the disease. Elaprase is also on the process of being approved both in the U.S. FDA and in the European Medicines agency (EMEA).
Mucopolysaccharidosis type II Hunter syndrome- severe form Symptoms and Signs
Type A symptoms may include coarse facial features and short stature, enlarge liver and spleen, progressive and profound mental retardation, ivory-colored skin lesions of the upper arms and thighs, skeletal changes, joint stiffness, short neck, broad chest, too large head, progressive deafness, and atypical retinitis pigmentosa, and visual impairment.
Mucopolysaccharidosis type II Hunter syndrome- severe form Treatment
There is no cure for Hunter syndrome yet. Medical care is geared to relieve the symptoms. Respiratory care and monitoring is important. Specialists including geneticists are involved in caring for Hunter syndrome patients. Enzyme replacement is also an option to prevent the syndrome from getting worse.