[Encephalopathy with disorders of purine metabolism. Familial case].
D000255:Adenosine Triphosphate / Q000378:metabolism; D000493:Allopurinol / Q000627:therapeutic use; D000740:Anemia / Q000209:etiology; D001927:Brain Diseases / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D002247:Carbon Isotopes; D002675:Child, Preschool; D004912:Erythrocytes / Q000201:enzymology; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D007674:Kidney Diseases / Q000209:etiology / Q000473:pathology; D008297:Male; D008661:Metabolism, Inborn Errors; D011687:Purines / Q000096:biosynthesis / Q000378:metabolism*; D012652:Self Mutilation; D014166:Transferases / Q000378:metabolism; D014527:Uric Acid / Q000097:blood* / Q000378:metabolism / Q000633:toxicity
D002247:Carbon Isotopes; D011687:Purines; D014527:Uric Acid; D000493:Allopurinol; D000255:Adenosine Triphosphate; D014166:Transferases
Encéphalopathie avec troubles du métabolisme des purines. Observation familiale.