Lesch Nyhan syndrome

external

• Synonyms

  • Lesch-Nyhan syndrome
  • Hypoxanthine guanine phosphoribosyl transferase deficiency
  • HPRT deficiency
  • Kelley-Seegmiller syndrome
  • Juvenile gout

• Causes

  • Male gender
  • HPRT1 gene mutation

• Effects

  • High plasma urate
  • Hyperuricosuria
  • Uric acid stone
  • Chronic renal failure
  • Psychosis
  • Self-mutilation
  • Global developmental delay
  • Dark urine
  • Fencing stance

• Parents

  • X-Linked recessive congenital metabolic disease

• Description

  • "Purines not salvaged
  • degreaded to urate. Manifests at 3-12 months deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase"