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Lesch-Nyhan Syndrome or Kelly Seegmiller Syndrome


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Lesch-Nyhan Syndrome or Kelly Seegmiller disease is a rare disease that affects the bodies ability to break down purines.

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Lesch-Nyhan Syndrome or Kelly Seegmiller Syndrome

  1. 1. Lesch-Nyhan Syndrome
  2. 2. What is Lesch-Nyhan Syndrome? Lesch-Nyhan syndrome (LNS) or Kelley-Seegmiller syndrome is a rare hereditary disorder that affects the body’s ability to breakdown and build Purines. A purine (Adenine, Guanine) is a protein found in normal healthy body tissue that makes the body’s blueprint. They are also important for the metabolism of RNA and DNA that make up our genetic code, this mutation causes uric acid build up, neurological disability, and self injury.
  3. 3. What is the cause/Pathophysiology? Lesch-Nyhan is caused by a mutation in the HPRT1 gene, a x-linked recessive disorder, making it a sex-linked disorder.
  4. 4. Who is it most common in? LNS occurs in similar frequency in all races, but more common in males. 1 in 380,000 people are infected by LNS. If females are diagnosed LNS usually presents as asymptomatic, but if not the only symptom is severe gout.
  5. 5. What parts of the body does it effect? It effects… ● Blood ● Urine ● Joints ● Bones ● Muscles ● Body tissue ● DNA ● Kidneys ● Bladder ● Nervous System ● Bodily harm is a common symptom with LNS causing injury to various parts of the body
  6. 6. What are the symptoms? Symptoms of LNS are... ● Irritability ● Nervous System impairment ● Chorea: jerking motions ● Hyperuricaemia: blood in urine ● Pain and swelling in joints ● Difficulty swallowing ● Behavioral problems ● Self-Injury ● Balance problems ● Delay in motor development ● Hypertonia: too much muscle tone ● Renal failure: kidney failure ● Puberty is delayed ● Testicular Atrophy: testes shrink ● Uric acid overproduction ● Gout/Arthritis ● Ballismus: flailing of limbs ● Kidney/Bladder stones ● Growth is delayed ● Learning disabilities ● Aggression ● Manipulative behavior ● Dystoma: tensing of muscles ● Spastic Cerebral Palsy: contraction of muscles
  7. 7. What are the onset of symptoms? Most symptoms of LNS are congenital, but some aren’t present at birth. As the individual get older the symptoms are more severe. In infancy stages (3- 12 months) patients usually experience delayed motor function, and 6-18 months patients experience chorea and involuntary movements within their body.
  8. 8. What are the exams/tests? Physicians can diagnose LNS by physical examination, spot tests, and genetic testing. In physical examination, a doctor looks for certain symptoms common for the disease, but can lead to a misdiagnosis of cerebral palsy, mental retardation, or other metabolic disorders. In a spot test doctors look for high uric acid in blood and urine to help diagnose LNS, but results can lead to other metabolic disorders. Lastly physicians can perform molecular genetic mutation test on the HPRT gene to physically see the mutation, to lead to an 100% diagnosis.
  9. 9. What is the treatment? There are no FDA approved drugs to treat LNS, but there are drugs in the clinical stage of testing. Doctors and researchers have broken down the disease into it’s major symptoms and treat symptomatically, with drugs and support within the family.
  10. 10. What is the prognosis? When a patient has LNS, death is usual in the 20s or 30s with few reaching their 40th birthday. Death is usually from aspiration pneumonia or complications of nephrolithiasis, sometimes sudden death is idiopathic
  11. 11. What is the history?