title: Benign persistent orotic aciduria and the possibility of misdiagnosis of ornithine carbamoyltransferase deficiency.
authors.affiliation: NSW Biochemical Genetics Service, Royal Alexandra Hospital for Children, NSW, Sydney, Australia.
authors.forename: K H
authors.initials: KH
authors.lastname: Carpenter
authors.forename: M
authors.initials: M
authors.lastname: Potter
authors.forename: J W
authors.initials: JW
authors.lastname: Hammond
authors.forename: B
authors.initials: B
authors.lastname: Wilcken
mesh_terms: D000493:Allopurinol; D002648:Child; D002675:Child, Preschool; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D006074:Gout Suppressants; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D009963:Orotic Acid / Q000652:urine*; D011507:Proteinuria / Q000209:etiology / Q000235:genetics; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis* / Q000652:urine
chemical_list: D006074:Gout Suppressants; D009963:Orotic Acid; D000493:Allopurinol