T-substance anomaly: an inborn error of purine metabolism.
D006801:Humans; D008499:Medical Records; D008659:Metabolic Diseases; D011687:Purines / Q000378:metabolism*; D014556:Urine / Q000737:chemistry*
D011687:Purines; C030985:purine
METABOLIC DISEASES/case reports; PURINES/metabolism; URINE/chemistry