Hyperuricosuric encephalopathy without hyperuricaemia.
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications*; D001835:Body Weight; D001927:Brain Diseases / Q000209:etiology* / Q000235:genetics; D002247:Carbon Isotopes; D002675:Child, Preschool; D004035:Diet Therapy; D005260:Female; D005808:Genes, Recessive; D005998:Glycine; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology; D010375:Pedigree; D011687:Purines / Q000096:biosynthesis*; D014527:Uric Acid / Q000097:blood / Q000652:urine*
D002247:Carbon Isotopes; D011687:Purines; D014527:Uric Acid; D005998:Glycine