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Lesch-Nyhan (LN) syndrome, is a X-linkedrecessive-disorder affecting predominantly males, caused by deficiency of hypoxanthine-guanine-p hosphoribosyl-transferase (HGPRT) an important enzyme in the uric acid metabolism. The syndrome is characterised by self-aggression,… Click to show full abstract
Lesch-Nyhan (LN) syndrome, is a X-linkedrecessive-disorder affecting predominantly males, caused by deficiency of hypoxanthine-guanine-p hosphoribosyl-transferase (HGPRT) an important enzyme in the uric acid metabolism. The syndrome is characterised by self-aggression, self-mutilation, choreoathetosis and intellectual abnormalities.[1] Severe deficiency of HGPRT in Grade-4 LN syndrome leads to the accumulation of uric acid crystals in different organs and is characterised by acute generalised dystonia, behaviour alterations such as self-aggression, seizures and cognitive impairment and therefore presents with multiple anaesthetic challenges.[1,2]
Journal Title: Indian Journal of Anaesthesia
Year Published: 2019
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