E79: Disorders of purine and pyrimidine metabolism
Disorders of purine and pyrimidine metabolism represent a group of conditions generally characterized by an imbalance in the body's handling of purines and pyrimidines, building blocks of our DNA and RNA. Various genetic mutations may be the root cause, leading to abnormal production, breakdown, or use of these molecules. The result is an over-accumulation or deficiency of certain substances in the body, causing a broad spectrum of symptoms. Typically, these conditions can manifest with a range of signs including developmental delays, mental retardation, physical impairments, skin disorders, and problems with the nervous system. The severity, age of onset, and progression of these conditions can vary significantly, largely dictated by the specific type of purine or pyrimidine disorder. Notably, these disorders can affect many organ systems in the body, encompassing the brain, kidneys, and skin among others.
Patient Disclaimer
The information provided on this page is for general educational purposes only. It is not intended for self-diagnosis and does not replace professional medical advice. Always consult your doctor or a qualified healthcare provider with any questions or concerns about your health.
If you see an ICD diagnosis code (e.g., on a medical report), be aware that doctors may also include additional indicators to express diagnostic certainty. Only a healthcare professional can interpret these codes accurately in the context of your individual case.
For a complete understanding of your condition and what the diagnosis means for you, please speak directly with your doctor.