LESCH- NYHAN SYNDROME
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
Diagnosis
- Hyperuricemia
- HGPRTase enzyme acitivity in RBCs is deficient
Treatment
- 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.
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