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Pediatrics General 80fbb6a1

A 6 year old male child presented with deterioration of renal functions. On examination, he is mentally retarded and has got athetosis. There are multiple healed wounds on his body. His mother reassures you that it was as a result of self inflicted injuries. USG showed bilateral renal calculi. Which of the following statements is FALSE regarding the above mentioned condition?

A
Allopurinol may be used in treating the condition
B
Death from end stage renal disease during adolescence is common
C
It is an autosomal recessive condition
D
Kelley - Seegmiller syndrome is a milder variant of the condition
High-Yield Explanation
Lesch - Nyhan syndrome is an X linked recessive condition and is seen in males. In this condition there is complete lack of hypoxanthine guanine phosphoribosyl transferase. This causes the accumulation of both hypoxanthine and guanine, it is subsequently metabolised to xanthine and finally to uric acid. In Kelley - Seegmiller syndrome occurs due to paial deficiency of HP. Ref: Essential revision notes for MRCP by Philip A Kalra, Edition 3, Page 323

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