NUTR 641 Mod 7 Discussion Thread: Research Case Study Lesch Nyhan Syndrome Oct 22
Each student will provide detailed, well-explained, and thoughtfully constructed research results to the
assigned case study in the form of an initial discussion thread. Your in-depth critical thinking as you
present your research results regarding the subject of discussion should meet graduate-level writing
expectations. Research presented should be concise and focused on your assigned topic.
Prof and classmates,
Lesch Nyhan syndrome (LNS) is a rare, inherited metabolic disorder caused by an enzyme
deficiency.1 LNS goes by several other names including choreoathetosis self-mutilation syndrome, HPRT
deficiency, and Lesch Nyhan disease.2 An over production of uric acid in the body causes neurological and
behavioral abnormalities, occurring almost exclusively in males.2 The prognosis for this disease is poor,
with diagnosed individuals only living 10-20 years, eventually succumbing to renal failure.1 “Signs and
symptoms may include inflammatory arthritis (gout), kidney stones, bladder stones, and a moderate
cognitive disability.”2 The name choreoathetosis comes from involuntary muscle movements and the
self-injury that occurs through biting and head banging.2 Symptoms present during the infantile stage of
life, so between one and twenty-four months.2
This disease is genetic, caused by the HPRT1 gene and inherited by the x-linked recessive
inheritance.2 This gene is located on the X chromosome, exclusively effecting males.2 Severe mental
retardation is not typical, but significant learning disabilities and short attention spans are.
Lesch Nyhan Syndrome is caused by a lack of the hypoxanthine guanine phosphoribosyl
transferase (HPRT) enzyme.4 This enzyme is encoded by the HPRT1 gene.4 HGPRT is a transferase that is
responsible for the catalyzing the conversion of hypoxanthine to inosine monophosphate and guanine
into guanosine monophosphate.5 HGPRT is crucial in the generation of purine nucleotides which occurs
in the purine salvage pathway.5 Guanine and hypoxanthine are purine bases that are catalyzed through
the transfer of phosphoribose from PRPP.5 HPRT is a 217-amino acid protein and is expressed in all
tissues at low levels, present especially in the brain.5 Purines are synthesized de novo by a salvage
pathway from normal catabolism, the end product of catabolism of purines is uric acid.6
In normal body processes uric acid passes through the kidneys leaving the body in the urine.4 In
LNS the body retains to much uric acid which clumps together forming stones or crystals called urate in
the joints.1 The collection of these crystals causes a rare and painful form of arthritis called gout. The
body is not able to metabolize the uric acid causing the buildup, impacting many different body
functions.1
Treatment begins with building a medical team for support which will help to build a diagnosis
and improve medical care for the duration of the individual’s life. Treatment will take the involvement of
different specialists dependent upon the symptoms experienced, which could change over time. More
than likely a genetic test will be used for diagnosis of LNS.
Treatment for the overproduction of uric acid will help to prevent gouty arthritis, kidney stones,
and renal failure.3 It is imperative to remain hydrated, this keeps the flow of uric acid moving through the
kidneys. Dehydration should be avoided. Hydration with the medication allopurinol helps to slow uric
References:
acid production.3 There are other medications that will lower uric acid levels but they increase the risk
of kidney stones.3 If the stones get bad enough, there is an option for surgical removal.
A diet of low purines is suggested by some nutritionists but other than that there are no dietary
restrictions. There is no evidence that supports a low purine diet has any type of influence on the
disease. Some people who have LNS may experience trouble swallowing therefore may need softer
foods or require a liquid diet. If weight loss is sufficient a feeding tube may be inserted.3
Neurological disabilities and mental retardation are not typically severe.3 A wheelchair maybe be
an essential medical device necessary for comfort and mobility. The neurological disability can create
stiffness and twisting of the muscles, there is no cure for this but there are medications that are
frequently used such as baclofen, diazepam, and clonazepam.3 These medications only help to promote
mobility and reduce muscle stiffness.3 The environment the inflicted individual lives in will play a major
role in their ability to thrive and learn. Recent research has introduced new pharmacological and
therapeutic advancements that help with mood stabilization and anxiety management. Deep brain
stimulation has proven to reduce self-injury and aggression.7 The use of S-adenosylmethionine (SAMe)
has also shown to help.7 SAMe is a chemical that is naturally produced in the human body, it has been
replicated and sold in the U.S. as a dietary supplement.7
To reduce the incidence of behavioral problems such as self-injury seems very inhumane through
the use of physical restraints, elbow splints and sometimes even the extreme of removing one’s teeth to
prevent self-biting injuries.3 Behavior therapies and different medications are also options, often
combined to help control or mitigate self-harming behaviors. These medications that can help reduce
the frequency of these behaviors include gabapentin, carbamazepine, diazepam, and risperdal.3
Risperdal can worsen neuromotor issues and cause drowsiness, so it is not often a first go-to of
medications.3
This was a rewarding discussion board as I learned something new about a genetic disorder, I
knew nothing about. Research concluded that treatment is symptom based and prognosis is poor. There
are pharmaceutical and therapy advances that help with improving the quality of life for those
diagnosed with LNS. Diagnosis is made through genetic testing and this disease occurs exclusively in
males through the x chromosome.
“Now may the God of hope fill you with all joy and peace in believing, that you may abound in
hope by the power of the Holy Spirit.”8 Romans 13:15
I chose Romans 15:13 scripture because I believe that to live with hope will bring peace. No
matter how short life may be, the best life is lived through hope and peace. At peace with one’s own
life.
One must rejoice and glorify God, to be a servant to the truth of God. They understand that their life is
not lived in vain, but lived by God’s truth.
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Lesch-Nyhan Syndrome | National Institute of Neurological Disorders and Stroke.
www.ninds.nih.gov. https://www.ninds.nih.gov/health-information/disorders/lesch-nyhan-
syndrome
Lesch Nyhan syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS
Program. Nih.gov. Published 2015. https://rarediseases.info.nih.gov/diseases/7226/lesch-
nyhan- syndrome
Uric acid overproduction | www.Lesch-Nyhan.org. www.lesch-nyhan.org. Accessed September
30, 2022. http://www.lesch-nyhan.org/en/treatment/uric-acid-overproduction
Hypoxanthine guanine phosphoribosyltransferase deficiency - About the Disease - Genetic and
Rare Diseases Information Center. rarediseases.info.nih.gov. Accessed October 2, 2022.
https://rarediseases.info.nih.gov/diseases/2943/hypoxanthine-guanine-
phosphoribosyltransferase-deficiency
Ogasawara N. Nihon Rinsho. 1996;54(12):3207-3212.
Hypoxanthine-Guanine Phosphoribosyltransferase - an overview | ScienceDirect Topics.
www.sciencedirect.com. https://www.sciencedirect.com/topics/biochemistry-genetics-and-
molecular-biology/hypoxanthine-guanine-phosphoribosyltransferase
Harris JC. Lesch–Nyhan syndrome and its variants. Current Opinion in Psychiatry. 2018;31(2):96-
102. doi:10.1097/yco.0000000000000388
Bible Gateway passage: Romans 13-15 - New King James Version. Bible Gateway. Accessed
October 3, 2022. https://www.biblegateway.com/passage/?search=Romans+13-
15&version=NKJV
