Phosphoribosylpyrophosphate Synthetase Superactivity

Background:
Pyrimidine and purine metabolism disorders (DPPMs) affect how the body metabolizes chemicals called pyrimidines and purines. DPPMs can cause dysfunctions throughout the body, especially in the brain, blood, kidneys, and immune system. People with DPPMs might have no symptoms, mild symptoms, or they may have severe, chronic symptoms, that can be fatal. DPPMs are not well understood, and researchers want to learn more about what causes them and how to treat them.
Objective:
To learn more about factors that affect DPPMs by comparing test results from affected, uaffected family members, and healthy people.
Eligibility:
Three types of participants are needed: people aged 1 month and older with DPPMs; their family members who do not have DPPMs; and healthy volunteers.
Design:
Participants with DPPMs will come to the clinic once a year; some may be asked to come more often. At each visit, all affected participants will have a physical exam and give samples of blood, urine, saliva, and stool. Depending on their symptoms, they may also have other procedures, such as:
Swabs of their skin and inside the mouth.
Tests of their heart, kidney, brain, and nerve function.
Questionnaires about what they eat.
Dental exams, and exams of their hearing and vision.
Tests of their learning ability.
Monitoring of their physical activity.
Imaging scans.
Photographs of their face and body.
These tests may be spread over up to 7 days. Affected participants may remain in the study indefinitely if they wish to.
Healthy volunteers and family members will have 1 study visit. They will have a physical exam and may be asked to give blood, urine, saliva, and stool samples.