Lesch–Nyhan syndrome

Also known as: HPRT deficiency; hyperuricemia with self-injury

X-linked purine metabolism disorder with hyperuricemia, kidney stones and self-injury.

Medical specialty: Nephrology
Subspecialty: Nephrology / Metabolic kidney disease
Sex & age distribution: Male: affected, nearly all; Female: carriers mild; Children: yes, infancy
Gene(s) involved: HPRT1

Etiology & mechanism

HPRT1 deficiency.

Gene(s) involved (1)

HPRT1

Symptoms & signs (7)

choreoathetosisdystoniagoutintellectual disabilitykidney stonesorange crystals in diapersself-injurious behavior

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