Hunter syndrome, also known as mucopolysaccharidosis type II (MPS II), is a rare genetic disorder that primarily affects males. It is classified as a lysosomal storage disorder, which means that certain enzymes responsible for breaking down complex sugars are deficient or absent.
Synonyms for Hunter syndrome include:
- Mucopolysaccharidosis type II (MPS II): This is the medical term used to describe Hunter syndrome. It refers to the specific type of mucopolysaccharidosis caused by a deficiency of the enzyme iduronate-2-sulfatase.
- Iduronate-2-sulfatase deficiency: This term highlights the specific enzyme that is lacking in individuals with Hunter syndrome. The deficiency leads to the accumulation of certain complex sugars in the body.
- MPS II: This abbreviation is commonly used by healthcare professionals to refer to mucopolysaccharidosis type II, which encompasses Hunter syndrome.
- Sulfoiduronate sulfatase deficiency: This term emphasizes the deficiency of the enzyme sulfoiduronate sulfatase, which is responsible for breaking down certain complex sugars. The lack of this enzyme is a characteristic feature of Hunter syndrome.
- Iduronate sulfatase deficiency: This synonym highlights the deficiency of the enzyme iduronate sulfatase, which is necessary for the breakdown of certain complex sugars. The absence of this enzyme is a key factor in the development of Hunter syndrome.
Hunter syndrome is a progressive disorder that affects various body systems, including the skeletal, cardiovascular, respiratory, and central nervous systems. It can lead to a wide range of symptoms, such as developmental delays, coarse facial features, joint stiffness, enlarged organs, hearing loss, and cognitive impairment.
Early diagnosis and intervention are crucial for managing Hunter syndrome. Treatment options focus on alleviating symptoms and improving quality of life. Enzyme replacement therapy and supportive care measures are commonly employed to address specific symptoms and complications associated with the disorder.