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A Case of Lesch-Nyhan Syndrome Manifesting Only Chronic Gouty Arthritis without Neurologic Symptom

Yeo Y, Choi EY, Yoon HJ, Jung S, Kim D, Lee S, Joo KB, Jun JB

Deficiency of hypoxanthine-guanine phosphoribosyltransferase is a purine nucleotide disorder and is the most common genetic cause of uric acid overproduction. This disease has a wide range of spectrum with regard...
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Anesthetic Experience of Percutaneous Nephrolithotomy for Renal Calculi in a Patient with Lesch-Nyhan Syndrome: A case report

Jun IG, Chin JH, Kim YK, Kim YU, Cho SK, Hwang GS, Hwang JH

Lesch-Nyhan syndrome (LNS) is a rare, X-linked recessive inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine-phophoribosyltransferase, leading to excessive purine production and elevation of uric acid. Clinical manifestations...
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Three Cases of Lesch-Nyhan Syndrome: Cases report

Shin YB, Han JE, Kim KM, Yang SH, Im DS

  • KMID: 2178522
  • J Korean Acad Rehabil Med.
  • 2005 Dec;29(6):673-677.
Lesch-Nyhan syndrome is a rare X-linked recessive metabolic disorder characterized by developmental delay, hyperuricemia, choreoathetosis, spasticity, mental retardation, and compulsive self-injurious behavior. This disorder results from a complete deficiency of...
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Lesch-Nyhan syndrome and purine and pyrimidine metabolism didorders

Kim SZ

  • KMID: 2168076
  • Hanyang Med Rev.
  • 2005 Aug;25(3):92-101.
Purine & pyrimidine nucleotides are basic constituents of cellular DNA and RNA polynucleotides. Their function includes regulation of cell metabolism and function, energy conservation and transport and formation of coenzymes...
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A Case of Lesch-Nyhan Syndrome

Kim JS, Lee JS, Noh HY, Kim BJ, Woo YJ, Park JM, Kim MG, Kim GH, Yoo HW

  • KMID: 2335733
  • J Korean Pediatr Soc.
  • 2003 May;46(5):505-509.
Lesch-Nyhan syndrome is an X-linked recessive disorder characterized by hyperuricemia, choreoathetosis, spasticity, mental retardation, and compulsive, self-injurious behavior. This disorder results from a complete deficiency of the purine salvage enzyme,...
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Molecular characterization and Prenatal Molecular Evaluation of three fetuses in four unrelated Korean families with Lesch-Nyhan syndrome

Yoo HW, Kim GH

  • KMID: 1538079
  • J Genet Med.
  • 1998 Mar;2(1):17-22.
The Lesch-Nyhan syndrome which is caused by the deficiency of hypoxanthine guanine phosphoribosyltransferase is an X-linked recessive disorder characterized by hyperuricemia, choreoathetosis, mental retardation and compulsive self-injurious behavior. Clinical management...
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