What is your preferred method for diagnosing adenine phosphoribosyltransferase (APRT) deficiency in a patient with recurrent kidney stones and abnormal crystalluria?
2 Answers
Mednet Member
Nephrology · Mayo Clinic
Genetic testing using a panel that includes APRT is the most reliable and straightforward thing to do.
There is not a laboratory in the United States currently that can measure urinary or blood dihydroxy adenine.
You can send a blood spot to the University of California San Diego lab for enzymatic a...