An inheritable disorder where one produce too much uric acid (uric acid is waste product and is passed normally through ones urine), instead of leaving through the urine, it is released in from the blood to the skin this then lead to a build up of sodium urate crystals ad may cause the following:
It can also cause muscle and nerve damage abnormal involuntary muscle movements, such as tensing of various muscles (dystonia), jerking movements (chorea), and flailing of the limbs (ballismus).
It can also affect one’s behaviour i.e. Self-injury (including lip and finger biting and/or and head banging) is the most common and distinctive behavioral problem in individuals with Lesch-Nyhan syndrome.
Genetic Home Reference
It mainly affects males and is rare in females and can be detected as early as six months
Cause
Changes or mutations of the HPRT1gene (The gene provides instructions for making an enzyme called hypoxanthine phosphoribosyltransferase 1. This enzyme is responsible for recycling purines (Purines are nitrogen-containing compounds found in many foods (e.g., organ meats, poultry, and legumes), if this enzyme is not present then purines hypoxanthine and guanine are not built into nucleotides (a type of building block of DNA and its chemical cousin RNA), we need this for our cells to function.
This enzymes helps to recycle purines and therefore cells have a plentiful supply of building blocks for the production of DNA and RNA.
HPRT1 gene mutations that cause Lesch-Nyhan syndrome result in a severe shortage (deficiency) or complete absence of hypoxanthine phosphoribosyltransferase 1. When this enzyme is lacking, purines are broken down but not recycled, producing abnormally high levels of uric acid. For unknown reasons, a deficiency of hypoxanthine phosphoribosyltransferase 1 is associated with low levels of a chemical messenger in the brain called dopamine.
Dopamine transmits messages that help the brain control physical movement and emotional behavior, and its shortage may play a role in the movement problems and other features of this disorder. However, it is unclear how a shortage of hypoxanthine phosphoribosyltransferase 1 causes the neurological and behavioral problems characteristic of Lesch-Nyhan syndrome.
Some people with HPRT1 gene mutations produce some functional enzyme. These individuals are said to have Lesch-Nyhan variant. The signs and symptoms of Lesch-Nyhan variant are often milder than those of Lesch-Nyhan syndrome and do not include self-injury
Joint pain in hands and feet (particularly big toe)?
Flare up/attack of joint pain and inflammation?
Pain attack occur over 3 hours quickly last from 3 to 10 days and then go back to normal (pain free) and are unpredictable?
Inflamed (hot, red and swollen) joints?
Red and shiny skin over affected joints?
Peeling, itchy and flaky skin that affect joints?
Orange coloured deposits (‘orange sand’) in the diapers or underpants?
Involuntary writhing movements of the arms and legs (dystonia)?
Purposeless repetitive movements (chorea) such as flexing of the fingers, raising and lowering of the shoulders?
Facial grimacing?
Infants who had previously been able to sit upright typically lose this ability. Initially, muscles may be soft (hypotonia) and lead to difficulty in holding the head in an upright position?
Weak muscles?
Floppy muscles?
Tensing of various muscles ?
Jerking movements?
Crawling, sitting or walking (developmental delay)?
Lip and finger biting?
Head banging?
Scratch their face repeatedly?
Aggressiveness and screaming?
Irritated anxiety and depressed?
Vomiting?
Spitting?
Difficulty swallowing (dysphagia) and may be difficult to feed?
Speech difficulties?
Muscle spasm that causes the back to arch severely and the head and heels to bend backward?
Complications /Information to beware of/General tips:
Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice
Detailed Information
Please copy and paste any key words from the title: Lesch-Nyhan Syndrome in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).
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