What does LNS mean in CLINICAL MEDICINE
Lesch–Nyhan syndrome (LNS) is an inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase, or HPRT. This enzyme is responsible for breaking down certain nucleic acids like uric acid and purines. Without this enzyme, high levels of uric acid and other substances accumulate in the body, leading to a variety of health issues. LNS can be identified through an enzyme activity test performed on a sample of blood or saliva.
LNS meaning in Clinical Medicine in Medical
LNS mostly used in an acronym Clinical Medicine in Category Medical that means Lesch–Nyhan syndrome
Shorthand: LNS,
Full Form: Lesch–Nyhan syndrome
For more information of "Lesch–Nyhan syndrome", see the section below.
What Is Lesch–Nyhan Syndrome?
Lesch–Nyhan syndrome (LNS) is a genetic disorder that affects both males and females. It's characterized by the shortage or absence of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). This enzyme helps break down molecules called purines as well as uric acid in cells such as those found in the liver, kidney, brain, and spleen. When there's too little HPRT in the body, uric acid will not be broken down properly and it will build up until symptoms present themselves. The most common symptom is an overactive nervous system which can cause convulsions, tremors, hyperactivity, involuntary muscle movements and behavioral problems. Mental retardation and developmental delays are also common complications with LNS. Other symptoms may include gout due to high levels of uric acid in the blood, poor muscle control due to low creatine phosphate levels, joint stiffness due to calcium pyrophosphate deposits in joints and enlarged spleen due to increased red blood cell destruction within it.
Diagnosis & Treatment
Diagnosis of LNS starts with taking a medical history and performing physical examinations on family members as LNS is caused by mutation within certain genes passed on from parents to their children. Blood tests may also be required for confirming diagnosis which includes measuring levels of HPRT enzyme activity along with other biochemical tests used for measuring uric acid levels in the blood as well as looking for other genetic markers associated with LNS such as GTP cyclohydrolase I deficiency or hyperargininemia. Unfortunately there's no cure for LNS currently available but treatment options exist which focus on controlling symptoms such as medications to control seizures as well as physical therapy exercises aimed at helping improve motor skills among others. A balanced diet supplemented with vitamin B6 may also help reduce remaining neurological symptoms while dietary urea reduction may help reduce overall signs of discomfort caused by excess uric acid accumulation in body tissues.
Essential Questions and Answers on Lesch–Nyhan syndrome in "MEDICAL»CLINICAL"
What is Lesch—Nyhan Syndrome?
Lesch—Nyhan syndrome (LNS) is a rare inherited disorder that results in an excessive buildup of uric acid in the blood, leading to a variety of neurological and physical symptoms. It is caused by alterations in the gene for the enzyme hypoxanthine-guanine phosphoribosyltransferase, which is responsible for controlling uric acid production. People with LNS often experience intellectual disability, impaired muscle coordination, difficulty with speech, aggressive behavior and self-injury.
How common is Lesch—Nyhan Syndrome?
Lesch—Nyhan Syndrome is very rare, affecting only 1 in 36,000 people worldwide.
What are the signs and symptoms of Lesch-Nyhan Syndrome?
The signs and symptoms of Lesch-Nyhan Syndrome vary but may include delayed development (cognitively or physically), difficulty walking or standing steadily, involuntary movement of limbs or face muscles (dyskinesia), episodes where one may not be able to control their bladder or bowels (urinary incontinence), seizures, mental health issues such as depression or aggression, and self-injurious behaviors such as biting oneself.
What other conditions are associated with Lesch—Nyhan Syndrome?
Other than intellectual disability and problems with motor skills common among people affected by LNS there can also be kidney stones due to excess uric acid accumulation in the body which can lead to decreased kidney function known as renal impairment. Additionally they may experience certain metabolic disorders due to lack of activity from essential enzymes such as hypoxanthine guanine phosphoribosyltransferase (HGPRT).
How is Lesche Nyham Syndrome Diagnosed?
A diagnosis for LNS can usually be made by either genetic testing or biochemical studies looking at levels of uric acid in the body especially during early childhood when symptoms become more prevalent. Often times it will be established through family history since LNS is inherited via a single gene on chromosome X which males have inherited from their mothers.
Are there any treatments available for Lesche Nyham Syndrome?
Unfortunately there isn't a cure for Lesche Nyham syndrome yet however treating symptoms has been known to help those suffering from it. This includes drug therapies that reduce both neuropathic pain and acute attacks; physical therapy; occupational therapy; speech therapy; anesthesia management; surgeries such as gastric feeding tube insertion; dietary intervention to limit purine intake (since purines break down into higher levels of uric acid); vitamin B6 supplementation; analgesics etc.
Is there any way to prevent/delay onset of this disorder?
There currently aren't any methods to prevent or delay onset of this disorder however if you know someone who has tested positive for it then genetic counseling would be helpful since their risk would increase if they planned on having children. Additionally getting regular medical checkups including monitoring uric acid levels will help catch any potential issues before they become severe.
Is there a support group I can join if I am affected by this condition?
Yes! Support groups like https://www.cnduk.org/leschnyhamsyndrome can offer emotional support as well as information about treatment options and strategies that might help reduce some of your symptoms.
Final Words:
Lesch–Nyhan syndrome (LNS) is a rare genetic disorder caused by deficiency of an important enzyme responsible for metabolizing certain nucleic acids found within cells such as those located in brain tissue or organs like liver or kidney among others leading to various complications associated with it including mental retardation or behavioral issues among others if left untreated but fortunately treatment strategies exist which can help alleviate some of its symptoms although progress has been slow at present time due current lack scientific knowledge about its actual nature.
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