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?
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
Allopurinol may be used in treating the condition
Death from end stage renal disease during adolescence is common
It is an autosomal recessive condition
Kelley - Seegmiller syndrome is a milder variant of the condition