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Home > West Medicine > Pediatrics > Pediatric Internal Med
百科

Lesch-Nyhan syndrome in children

儿科综合

Common symptoms

不自主运动、踝阵挛、尿道结石、结节、角弓反张、多尿、攻击行为、肾功能衰竭

The pathology of disease

Lesch-Nyhan syndrome in children is X-linked HGPRT deficiency; hyperuricemia; self-mutilation; boys; neurologic; allopurinol; supportive; pediatric neurology/genetics.

Symptoms

Self-mutilation; choreoathetosis; hyperuricemia; boys; X-linked; child

Causes

HPRT1 mutation; X-linked; HGPRT deficiency; Lesch-Nyhan.

Treatment

Allopurinol; supportive; behavioral; pediatric neurology/genetics; no cure

Dept

Pediatric neurology / pediatrics / genetics.

Warm reminder: Health education reference only; seek care at regular hospital.