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