De Jesus, Joan Mae V.      DMD 2D
A] DEFINITION:•Also known as Nyhans syndrome,        Kelley-  Seegmiller syndrome and Juvenile gout•It is a hereditary dis...
Overproduction of uric acid                               • Athetosis (uncontrolled • Urate crystal   formations, which lo...
D] CLASSIFICATION OF DISEASE
Formation of uric acid crystals in the joints leads                 to inflammation
PODAGRAGout causes sudden, yet severe attacks of pain, redness, and        tenderness and inflammation of the joints
11. de jesus   lesch–nyhan syndrome
11. de jesus   lesch–nyhan syndrome
11. de jesus   lesch–nyhan syndrome
11. de jesus   lesch–nyhan syndrome
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11. de jesus lesch–nyhan syndrome

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11. de jesus lesch–nyhan syndrome

  1. 1. De Jesus, Joan Mae V. DMD 2D
  2. 2. A] DEFINITION:•Also known as Nyhans syndrome, Kelley- Seegmiller syndrome and Juvenile gout•It is a hereditary disorder of purine metabolism, characterized by menntal retardation, self-mutilation of the fingers and lips by biting, impaired renal function, and abnormal physical development.• It is a recessive disease that is linked to the X chromosome• It is caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT)
  3. 3. Overproduction of uric acid • Athetosis (uncontrolled • Urate crystal formations, which look like muscle movements of the orange sand arms and legs) • Kidney stones • Involuntary writhing • Blood in the urine movements • Dysphagia (difficulty • Moderate mental retardation swallowing) • Swelling of the joints • Vomiting Neuroglial disabilitiesBehavioral Abnormalities - Grimacing experience• Self-mutation - Spasticity• Aggression/Impulsion -Chloreathetosis (involuntary repetitive movement) - Decreased muscle tone
  4. 4. D] CLASSIFICATION OF DISEASE
  5. 5. Formation of uric acid crystals in the joints leads to inflammation
  6. 6. PODAGRAGout causes sudden, yet severe attacks of pain, redness, and tenderness and inflammation of the joints
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