NYHAN SYNDROME Meaning and
Definition
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Nyhan syndrome, also known as Lesch-Nyhan syndrome or Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, is a rare inherited disorder characterized by severe neurological abnormalities and the overproduction of uric acid. This syndrome is primarily caused by a mutation in the HPRT1 gene located on the X chromosome.
Individuals with Nyhan syndrome typically exhibit a range of symptoms that may become apparent in early infancy. These symptoms include developmental delays, intellectual disability, muscle stiffness, involuntary muscle movements (dystonia), and spasticity. Additionally, affected individuals may exhibit self-injurious behaviors such as biting, head-banging, and lip and finger biting, which are considered hallmark characteristics of this syndrome.
The overproduction of uric acid is another significant feature of Nyhan syndrome. It leads to the development of hyperuricemia, which can cause a variety of health problems such as kidney stones, gout, and the formation of uric acid crystals in the joints and other tissues of the body.
Unfortunately, there is no cure for Nyhan syndrome, and treatment focuses on managing the symptoms and preventing complications. Medications such as allopurinol may be used to reduce the excess production of uric acid and decrease the risk of associated complications. Behavioral interventions and supportive therapies, such as physical and occupational therapy, may also be employed to address the neurological and behavioral challenges faced by individuals with this syndrome.
In summary, Nyhan syndrome is a rare genetic disorder characterized by severe neurological abnormalities, overproduction of uric acid, and self-injurious behaviors. Early diagnosis and intervention are crucial in managing the symptoms and improving the quality of life for affected individuals.
Common Misspellings for NYHAN SYNDROME
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Etymology of NYHAN SYNDROME
The term Nyhan syndrome refers to Lesch-Nyhan syndrome, a rare genetic disorder characterized by the presence of self-injurious behaviors and neurological abnormalities.
The term was coined after the two physicians who first described the syndrome: Dr. Michael Lesch, an American physician and psychiatrist, and Dr. William Nyhan, an American pediatrician, geneticist, and neurologist. In 1964, Lesch and Nyhan published a seminal paper documenting the clinical features and biochemical abnormalities associated with the condition, which led to the eponymous name Lesch-Nyhan syndrome.
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