Inborn disorder of purine metabolism
Inborn disorder of purine metabolism
Definition
An inherited metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process.
Also known as inborn error of purine nucleobase metabolic process, inborn purine nucleobase metabolic process disorder, rare inborn error of purine nucleobase metabolic process — per MONDO
Also identified as
- Orphanet 79191 per MONDO