Lesch-nyhan Syndrome

Email Comment bookmark
Font : A-A+

Other Names :  

Kelley-Seegmiller syndrome, Juvenile gout, Nyhanís syndrome

What is Lesch-nyhan Syndrome ?  

An inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase. Mostly occurs in males who suffer delayed growth and puberty. Female carriers have increased risk of developing gouty arthritis.

Cause(s) :  
  • Mutations in the HPRT gene located on the X-chromosome.
Symptoms :  
  • Neurologic dysfunction
  • Cognitive and behavioural disturbances
Over production of uric acid:
  • Sand-like crystals of uric acid seen in diapers of affected infants
  • Developing uric acid crystals or stones in kidney, ureter or bladder, leading to arthritis
  • Hematuria (blood in urine)
Nervous system:
  • Decreased muscle tone
  • Developmental delay, noticeable by three to six months of age
  • Involuntary muscle contraction
  • Loss of motor control
  • Writhing motions
  • Arching of spine
  • Spasticity
  • Overactive reflexes
Self-Injuring behaviour due to cognitive impairment:
  • Biting lips
  • Finger biting
  • Head banging
LNS in females:
  • Carrier females are generally asymptomatic
  • Some females experience increased uric acid excretion
Diagnosis and Tests :  Testing for three clinical elements
  • Uric acid overproduction
    • Uric acid in urine
    • Hematuria
  • Neurologic dysfunction
    • Muscle tone
  • Cognitive and behavioural disturbances
    • Biting fingers and lips
    • Self-injury behaviour
  • Biochemical testing for carriers
  • Molecular genetic testing
Specialist to consult :  Nephrology

Post a Comment

Comments should be on the topic and should not be abusive. The editorial team reserves the right to review and moderate the comments posted on the site.
Notify me when reply is posted
I agree to the terms and conditions

Medical Syndromes A-Z

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Add Medical Syndrome

Medindia Newsletters

Subscribe to our Free Newsletters!

Terms & Conditions and Privacy Policy.

Find a Doctor

Stay Connected

  • Available on the Android Market
  • Available on the App Store