Lesch-Nyhan Syndrome / Researcher: Kerry Lee

1) The common and scientific name of the disease.
Lesche-Nyhan Syndrome is also called Nyhan's syndrome.

2) What causes it?
Lesch-Nyhan Syndrome is a rare genetic disease that's x-linked recessive, passed on by the mother to the baby. Patients are typically young boys. The cause of this disease is mutation/shortage of an enzyme called hypoxanthine-guanine phosphoribosyltransferase (or HPRT for short), because of the shortage of the HPRT human's body will build up uric acid in all body fluids.

3) What are the symptoms? How long do they last? Is it deadly?
There is no symptoms before birth unless the mother is a known carrier or the disease. Otherwise the infant will appear normal at birth, an emotional symptom will appear at 2-4 months when the baby gets impatient or irritable easily. One of the most noticeable symptom is finding crystals of uric acid that appears sand-like in baby diapers. These are due to the overwhelming amount of uric acid built up in the infant's body. This eventually leads to mental retardation, excessive self-mutilation may start early as age of 2 (e.g. chewing on fingers, biting the lower lip or tongue off, head banging), reduced muscle tone, developmental delay are the most recognizable symptoms of LNS. All symptoms carry out through their whole life, and if not watched or tied carefully their mutilation habits will kill themselves as they cannot control their behavior.

4) Can it be cured? If so, how? If not, is there any way that we can at least treat it?
Firstly a control of the uric acid production is highly needed in the treatment, but may result in producing oxypurine stones instead. Almost all patients needs dental surgery done early, because of their biting behavior their teeth has to be pulled off by the complete set in order to prevent themselves doing further damage. However their behavior can be managed (although with difficulty) through time and patience, along with medication. Medication such as gabapentin(to relieve pain and epilepsy), carbamazepine(help epilepsy, maniac and depression) and diazepam(treats anxiety, insomia, muscle spasm, seizures, and others) has a high level of effectiveness on patient. The uric acid will also form kidney stones in patient's body, medical surgery can remove those for them, however they do grow again because of the mutation of HPRT. Unfortunately, the Lesch-Nyhan Syndrome is not curable, and may lead to early death due to the many disorders in the body HPRT can lead to.

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