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Lesch Nyhan Syndrome

XR disorder of purine metabolism that result from HPRT deficiency. Q

Clinical manifestation


Hyperuricemia, mental retardation, cerebral palsy, dysarthric speech, compulsive self bitting usually begin with eruption of teeth.

Self injurious behaviour (Self mutilation) Q usually begins with self bitting although other pattern of self-injurious behavior emerge with time.

Most characteristically the finger, mouth and buccal mucosa are mutilated. Self bitting is intense and cause tissue damage and may result in the amputation of finger and loss of tissue around lips.

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