Benign persistent orotic aciduria and the possibility of misdiagnosis of ornithine carbamoyltransferase deficiency.
Carpenter
K H
KH
NSW Biochemical Genetics Service, Royal Alexandra Hospital for Children, NSW, Sydney, Australia.
Potter
M
M
Hammond
J W
JW
Wilcken
B
B
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
D006074:Gout Suppressants; D009963:Orotic Acid; D000493:Allopurinol