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Timeline of Syndrome

Symptoms

  • Infants will have "orange sand" in diapers
  • Symptoms become evident between 3-6 months
  • Urine may be pink or reddish in color (hematuria)

Healed scars on Lesch-Nyhan patient as a result of self-biting

  • Involuntary movements begin between 6 - 18 months
  • Patient may develop kidney stones or kidney failure

Lesch-Nyhan patient with head protection and no teeth

  • Due to muscle weakness (hypotonia), patient may be slow at learning how to crawl, roll over, or sit and may never learn to walk
  • Behavioral problems and self-injury not usually present until after the 2nd birthday
  • On average, most die in their 20s or 30s
  • Weak muscles affect ability to eat and swallow which can lead to aspirating food into the lungs, causing aspiration pneumonia

Treatment

  • Usually treated with medication called allopurinol, urine alkalinization, and hydration
  • Cause of death varies
  • Physical rehibilitation for management of muscle weakness
  • Behavior problems may include abnormal involuntary movement, self-mutilation, and complusive behaviors
  • No treatment for neurological and behavioral symptoms

Lesch-Nyhan patient with custom helmet and limited motion elbow orthoses

  • Self-injury requires restraints and in some cases surgical extraction of teeth to prevent patient from harming himself
  • Irritability and uncontrolled aggressive behavior
  • Most need wheelchairs

The Science Behind It Cont.

  • Formation of DNA - nucleotides

The Science Behind It Cont.

  • Nucleotides synthesized from amino acids
  • "Salvage pathway"
  • In absence of HGPRT, purine bases degrade and are excreted as uric acid, as well as the synthetic rate for purines is accelerated
  • HGPRT is the "salvage enzyme" for the purines
  • Increased production of uric acid = hyperuricemia

Bibliography

  • Failure of HGPRT enzyme results in cell breakdown products not being reused and therefore degraded. This increases uric acid and a purine breakdown product
  • Hyperuricemia: Excess of uric acid in the blood
  • Inflammatory reaction and gouty arthritis
  • Urate stones, hematuria, and UTIs

What is Lesch-Nyhan Syndrome?

Kale, A., K. Shah, and S. Hallikerimath. "Lesch-Nyhan Syndrome: A Case Report." Journal of Indian Society of Pedodontics and Preventative Dentistry. Wolters Kluwer - Medknow, 1 May 2005. Web. 3 June 2015.

The Science Behind It

  • LNS is an X-linked recessive disorder, caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyl transferase (HGPRT) and produced by mutation in HGPRT gene

A rare X-linked recessive condition in which there is complete absense of activity from the enzyme hypoxanthine-guanine phosphoribosyl transferase (HPRT).

  • HGPRT enzyme present in each cell in body but highest concentration is in the basal ganglia part of the brain

"Madisons Foundation - Moms And Dads In Search Of Needed Support." Madisons Foundation. Madisons Foundation, 31 Aug. 2003. Web. 3 June 2015.

  • Basal ganglia is thought to be the director of which of the potential actions the cortex might be planning gets executed. May also play a role in planning and coordinating specific movement sequences

Who Does it Effect?

  • Males have the disease and females are carriers

How is it Caused?

  • HGPRT gene localized on the long arm of the X chromosome
  • If mother is carries, 50/50 chance that sons will have disease and 50/50 chance that daughters will be carriers

Denny, Dallas. "Self-Injurious Behavior In Lesch-Nyhan Syndrome (1985)." Dallas Denny Body of Work. George Peabody College of Vanderbilt University, 1985. Web. 3 June 2015.

  • The lack of HPRT activity results in an overproduction of uric acid

Diagnosis

  • Distributed evenly between races and geographic locations
  • Occurs as frequently as 1 in every 380,000 births
  • LNS can be diagnosed based on symptoms described
  • Most commonly inherited in an X-linked recessive pattern from carrier mother
  • Blood and/or urine tests to look for elevated levels of uric acid
  • Can occur from spontaneous genetic mutation
  • 1/3 of cases are spontaneous

Palermo, Elizabeth. "What Is Uric Acid?" LiveScience. TechMedia Network, 26 Apr. 2014. Web. 3 June 2015.

  • HPRT enzyme action in blood and/or cells is tested
  • Molecular genetic testing
  • Prenatal diagnosis possible if history of this mutation in the family

Garcia Puig, Dr. Juan, and Dr. Rosa Torres Jimenez. "Lesch-Nyhan Syndrome." Orphanet. Orphanet, 1 Apr. 2010. Web. 3 June 2015.

  • Other diagnosis: cerebral palsy, autism, Tourette syndrome, Cornelia de Lange syndrome, idiopathic intellectual deficit, and severe psychiatric disorders

"Lesch-Nyhan Syndrome." Genetics Home Reference. Genetic Home Reference, 1 Feb. 2013. Web. 3 June 2015.

Chhabra, Namrata. "Case Study-Lesch- Nyhan Syndrome." Biochemistry for Medics. 19 Mar. 2012. Web. 4 June 2015.

Lesch-Nyhan Syndrome

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