![A] DEFINITION:
•Also known as Nyhan's 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)](data:image/gif;base64,R0lGODlhAQABAIAAAAAAAP///yH5BAEAAAAALAAAAAABAAEAAAIBRAA7)
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11. de jesus lesch–nyhan syndrome
- 1. De Jesus, Joan Mae V. DMD 2D
- 2. A] DEFINITION: •Also known as Nyhan's 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. 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 disabilities Behavioral Abnormalities - Grimacing experience • Self-mutation - Spasticity • Aggression/Impulsion -Chloreathetosis (involuntary repetitive movement) - Decreased muscle tone
- 5. D] CLASSIFICATION OF DISEASE
- 7. Formation of uric acid crystals in the joints leads to inflammation
- 8. PODAGRA Gout causes sudden, yet severe attacks of pain, redness, and tenderness and inflammation of the joints