Disorder of purine metabolism

Disorders of purine metabolism are a group of rare inherited conditions where the body cannot properly break down or recycle purines — natural chemical building blocks found in every cell. Purines are essential for making DNA, RNA, and energy molecules like ATP. When the enzymes that handle purines do not work correctly, harmful substances can build up, or important molecules can become too scarce. This disrupts many body systems depending on which enzyme is affected. There are several distinct conditions within this group, including adenosine deaminase deficiency (ADA deficiency), purine nucleoside phosphorylase deficiency (PNP deficiency), adenylosuccinate lyase deficiency, ADSL deficiency, xanthinuria, and Lesch-Nyhan syndrome, among others. Symptoms vary widely by subtype but can include problems with the immune system, neurological development, kidney stones, joint pain, and intellectual disability. Some forms cause severe combined immunodeficiency (SCID), leaving children extremely vulnerable to infections from birth. Treatment depends on the specific subtype. Some forms can be managed with enzyme replacement therapy, dietary changes, or medications to reduce uric acid. Bone marrow or stem cell transplantation can be curative for immune-related forms. Gene therapy has been approved for ADA-SCID in some countries. Early diagnosis is critical because timely treatment can dramatically improve outcomes and quality of life.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Bring these to your next appointment

• Q1.Which specific type of purine metabolism disorder does my child or I have, and what gene is affected?,What treatment options are available for this specific subtype, and are any clinical trials open to us?,Should other family members be tested, and what is the chance of passing this on to future children?,What dietary changes should we make, and should we see a metabolic dietitian?,What warning signs should prompt us to go to the emergency room?,Is newborn screening available for this condition in our country, and should future pregnancies be tested prenatally?,What specialists should be part of our care team, and how often should we have follow-up appointments?

Common questions about Disorder of purine metabolism

Related conditions

Other rare diseases commonly researched alongside Disorder of purine metabolism.

• Adenylosuccinate lyase deficiency→
• Lesch-Nyhan syndrome→
• Purine nucleoside phosphorylase deficiency→