Lesch- Nyhan Syndrome



Main Features

  • It is X-linked Recessive disorder.
  • It is caused due to complete deficiency of Hypoxanthine guanine phosphoribosyl transferase (HGPRT deficiency).
  • It affects only males.
  • Increased production of purine nucleotide from PRPP via De Novo pathway.
  • Purine degraded into uric acid and its level increases.

Clinical features

  • Hyperuricemia
  • Gouty arithritis
  • Urinary stones
  • Intellectual disability
  • Dystonic movement
  • Dysarthric speech
  • Self mutilation (irresistible urge to bite the fingers and lips)
  • Megaloblastic anaemia


  • Hyperuricemia
  • HGPRTase enzyme acitivity in RBCs is deficient


  • Allopurinol
  • Alkalanization of urine
  • High fluid intake

Exam Important

  • It is a sex linked disorder. (X Linked Recessive Disorder)
  • The structural gene of HGPRT is located on X-chromosome.
  • There is a complete deficiancy of HGPRT 
  • Self mutilation is one of the characteristic feature of the syndrome.
  • Allopurinol is used in the treatment.
Don’t Forget to Solve all the previous Year Question asked on LESCH- NYHAN SYNDROME

Module Below Start Quiz

Leave a Reply

Free Mini Course on Stomach

Mini Course – Stomach

22 High Yield Topics in Stomach

in Just 2 Hours

Submission received, thank you!

Close Window
%d bloggers like this:
Malcare WordPress Security