A 3 year old boy is brought in for developmental delay and involuntary writhing movements. He has a history of self mutilation with biting of his lips and fingers. Orange sand like crystals have been noted in his diaper. Which of the following enzyme deficiencies is the most likely cause?
- A)Xanthine oxidase
- B)Dihydroorotate dehydrogenase
- C)Ornithine transcarbamylase
- D)Hypoxanthine guanine phosphoribosyltransferaseGABARITO
- E)Adenosine deaminase
Explicação
This boy has Lesch Nyhan syndrome caused by HGPRT deficiency. Failure of purine salvage increases PRPP and de novo purine synthesis, producing hyperuricemia, dystonia, aggression, and self injury. The orange crystals represent uric acid precipitation in the ur... Ver explicação completa e trilha adaptativa →