Lesch–Nyhan Syndrome (L

NS)

De Jesus, Joan Mae V.

DMD 2D

•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:

• 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

DENTAL CORRELATION OF

DISEASE IN DENTAL TREATMENT

C]

SINGLE GENE

AUTOSOMAL

RECESSIVE

D] CLASSIFICATION OF DISEASE

This condition is inherited in an X-linked recessive pattern

Formation of uric acid crystals in the joints leads to inflammation

Gout causes sudden, yet severe attacks of pain, redness, and tenderness and inflammation of the

joints

PODAGRA

Behavioral Abnormalities

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BEHAVIORAL ABNORMALITIES