The following clinical scenario contains (4) choose-between-two options: An 11-year-old boy with a history of developmental delay presents to your clinic. His mother states that for the past several weeks, he has been displaying symptoms of self-mutilation, and that he has been complaining of joint pain, especially to his toes and feet. On physical examination, there is marked swelling to the digits of his feet, especially his large toe, with associated redness. Given his clinical presentation, the patient likely has a defect with his (HGPRT / dihydrofolate reductase) enzyme. As a result, the patient most likely has (folate deficiency / Lesch-Nyhan syndrome). In clinical laboratory and urinalysis studies, you would expect this patient to have (lower / higher) levels of urate than normal reference ranges. Furthermore, de novo purine synthesis most likely occurs at a (lower / higher) rate in a healthy individual compared to your patient.

Biochemistry
9th Edition
ISBN:9781319114671
Author:Lubert Stryer, Jeremy M. Berg, John L. Tymoczko, Gregory J. Gatto Jr.
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Chapter1: Biochemistry: An Evolving Science
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The following clinical scenario contains (4) choose-between-two options:

An 11-year-old boy with a history of developmental delay presents to your clinic. His mother states that for the past several weeks, he has been displaying symptoms of self-mutilation, and that he has been complaining of joint pain, especially to his toes and feet. On physical examination, there is marked swelling to the digits of his feet, especially his large toe, with associated redness.

Given his clinical presentation, the patient likely has a defect with his (HGPRT / dihydrofolate reductase) enzyme. As a result, the patient most likely has (folate deficiency / Lesch-Nyhan syndrome). In clinical laboratory and urinalysis studies, you would expect this patient to have
(lower / higher) levels of urate than normal reference ranges. Furthermore, de novo purine synthesis most likely occurs at a (lower / higher) rate in a healthy individual compared to your patient.

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