HUNTER SYNDROME Meaning and
Definition
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Hunter syndrome, also known as mucopolysaccharidosis type II (MPS II), is a rare genetic disorder that falls under the category of lysosomal storage diseases. It is an X-linked disorder, meaning it primarily affects males, while females generally serve as carriers.
Hunter syndrome is caused by a deficiency in the enzyme iduronate-2-sulfatase (I2S). This enzyme is responsible for breaking down certain complex molecules called glycosaminoglycans (GAGs). In the absence of I2S, these GAGs accumulate within the body's cells, adversely affecting multiple organs and systems.
The symptoms of Hunter syndrome vary in severity, but generally appear during early childhood. Affected individuals may experience developmental delays, skeletal abnormalities, coarse facial features, joint stiffness, and an enlarged liver and spleen. This condition can also affect the heart and respiratory system, leading to a decline in overall health and lifespan if left untreated.
Treatment options for Hunter syndrome are currently limited and primarily focus on managing symptoms. Enzyme replacement therapy (ERT) is available, where the missing enzyme is provided to the patient intravenously. This can help alleviate some of the symptoms but does not correct the underlying genetic defect.
Overall, Hunter syndrome is a rare genetic disorder characterized by a deficiency in iduronate-2-sulfatase, leading to the accumulation of glycosaminoglycans within the body's cells. Proper medical management and supportive care are essential to improve quality of life for individuals affected by this condition.
Common Misspellings for HUNTER SYNDROME
- gunter syndrome
- bunter syndrome
- nunter syndrome
- junter syndrome
- uunter syndrome
- yunter syndrome
- hynter syndrome
- hhnter syndrome
- hjnter syndrome
- hinter syndrome
- h8nter syndrome
- h7nter syndrome
- hubter syndrome
- humter syndrome
- hujter syndrome
- huhter syndrome
- hunrer syndrome
- hunfer syndrome
- hunger syndrome
- hunyer syndrome
Etymology of HUNTER SYNDROME
The word "Hunter Syndrome" is derived from the name of the doctor who first described the disorder, Charles A. Hunter.
In 1917, Dr. Hunter, a Canadian physician, published a case report describing a rare genetic disorder characterized by skeletal abnormalities, intellectual disability, and progressive organ damage. Over time, this disorder came to be referred to as "Hunter Syndrome" in recognition of his significant contribution to understanding the condition.
The official medical term for Hunter Syndrome is mucopolysaccharidosis type II (MPS II), which refers to the specific genetic defect involved. However, the use of "Hunter Syndrome" remains prevalent in both medical and non-medical contexts due to its historical association with Dr. Charles A. Hunter.
