11. de jesus lesch–nyhan syndrome

1. Lesch–Nyhan Syndrome  ( LNS) De Jesus, Joan Mae V. DMD 2D

2. • 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) A] DEFINITION :

3. Athetosis (uncontrolled muscle movements of the arms and legs) Involuntary writhing movements Moderate mental retardation Neuroglial disabilities - Grimacing experience - Spasticity - Chloreathetosis ( involuntary repetitive movement) - Decreased muscle tone Overproduction of uric acid Urate crystal formations, which look like orange sand Kidney stones Blood in the urine Dysphagia (difficulty swallowing) Swelling of the joints Vomiting B] Signs and Symptoms Behavioral Abnormalities Self-mutation Aggression/Impulsion

4. DENTAL CORRELATION OF DISEASE IN DENTAL TREATMENT C]

5. SINGLE GENE AUTOSOMAL RECESSIVE D] CLASSIFICATION OF DISEASE

6. This condition is inherited in an X-linked recessive pattern

7. F ormation of uric acid crystals in the joints leads to inflammation

8. Gout causes sudden, yet severe attacks of pain, redness, and tenderness and inflammation of the joints PODAGRA

9. Behavioral Abnormalities

10. BEHAVIORAL ABNORMALITIES