Hunter
Hunter Syndrome
Hunter Syndrome (pronounced: /ˈhʌntər sɪnˈdroʊm/), also known as Mucopolysaccharidosis II (MPS II), is a rare genetic disorder that primarily affects males. It is named after Charles A. Hunter, a Canadian physician who first described the syndrome in 1917.
Etymology
The term "Hunter Syndrome" is derived from the name of the physician who first identified the condition, Dr. Charles A. Hunter. The term "Mucopolysaccharidosis" is derived from the Greek words "muco" meaning mucus, "poly" meaning many, and "saccharide" meaning sugar. It refers to the excessive amounts of mucopolysaccharides that accumulate in the body tissues of individuals with this disorder.
Definition
Hunter Syndrome is a type of lysosomal storage disease characterized by a deficiency of the enzyme iduronate-2-sulfatase (I2S). This enzyme is needed to break down certain complex molecules, and when it's missing or not working properly, these molecules can build up in harmful amounts.
Symptoms
Symptoms of Hunter Syndrome can vary widely in severity and may include growth delay, hearing loss, mental retardation, heart disease, and respiratory problems.
Diagnosis
Diagnosis of Hunter Syndrome is typically made through a blood test or urine test that can detect abnormal levels of certain enzymes or substances. Genetic testing can also be used to confirm the diagnosis.
Treatment
There is currently no cure for Hunter Syndrome. Treatment is focused on managing symptoms and improving quality of life. This may include enzyme replacement therapy (ERT), physical therapy, and surgery for specific complications.
Related Terms
External links
- Medical encyclopedia article on Hunter
- Wikipedia's article - Hunter
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