Kelley–Seegmiller syndrome

Also known as: Partial HPRT deficiency

Partial hypoxanthine-guanine phosphoribosyltransferase deficiency with gout and kidney stones.

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

Etiology & mechanism

Residual HPRT activity.

Gene(s) involved (1)

HPRT1

Symptoms & signs (4)

goutkidney stonesmild neurologic signsuric acid nephropathy

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