Lesch-Nyhan syndrome

Last revised by Rohit Sharma on 19 Apr 2020

Lesch-Nyhan syndrome is a rare X-linked genetic disease caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT).

Affects 1 per 380,000 individuals, which are nearly all male given the X-linked inheritance 1.

  • hyperuricemia-related symptoms such as gouty arthritis and uric acid nephrolithiasis 1,2
  • neurological symptoms which can include extrapyramidal signs such as choreoathetosis and dystonia as well as cognitive defects 1,2
  • classic self-mutilating behaviors 1,2

X-linked inherited absence of the nucleotide salvage enzyme HPRT leads to pathologic accumulation of uric acid as hypoxanthine, which would otherwise be recycled into nucleotides, is degraded into uric acid by xanthine oxidase 1.

Ultrasound of the renal tract shows:

  • increase in medullary echogenicity, which may be diffuse or patchy 3
  • increase in collecting system echogenicity 3
  • multiple uric acid stones 3

Brain CT or MRI shows decreased cerebral volume with a predilection for white matter 4.

Discovered in 1946 by Michael Lesch, an American medical student at Johns Hopkins University, and his mentor William Nyhan, a pediatrician and geneticist 1.

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