Benign persistent orotic aciduria and the possibility of misdiagnosis of ornithine carbamoyltransferase deficiency

Journal of Inherited Metabolic Disease

Volumn 20, Issue 3, 1997, Pages 354-358

  Carpenter, K H ^a   Potter, M ^a   Hammond, J W ^a   Wilcken, B ^a  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ALLOPURINOL; ORNITHINE CARBAMOYLTRANSFERASE; OROTIC ACID;

ACIDURIA; ADULT; CHILD; CLINICAL ARTICLE; CONFERENCE PAPER; DIAGNOSTIC ERROR; DIFFERENTIAL DIAGNOSIS; ENZYME DEFICIENCY; FEMALE; HETEROZYGOTE DETECTION; HUMAN; MALE; SCHOOL CHILD; URINALYSIS;

ALLOPURINOL; CHILD; CHILD, PRESCHOOL; FEMALE; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; GOUT SUPPRESSANTS; HUMANS; INFANT; INFANT, NEWBORN; MALE; ORNITHINE CARBAMOYLTRANSFERASE; OROTIC ACID; PROTEINURIA; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS;

EID: 0030811374     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005369726686     Document Type: Conference Paper

References (10)

1. Beardmore TD, Cashman JS, Kelley WN (1972) Mechanism of allopurinol mediated increase in pyrimidine metabolism in man. J Clin Invest 51: 1823-1832.
2. Harris ML, Oberholzer VG (1980) Conditions affecting the colorimetry of orotic acid and orotidine in urine. Clin Chem 26: 473-479.
3. Lotz M, Fallon HJ, Smith LH (1963) Excretion of orotic acid and orotidine in heterozygotes of congenital orotic aciduria. Nature 197: 194-195.
4. Potter M, Hammond JW, Wilcken B (1987) Establishing heterozygosity for ornithine transcarbamylase deficiency. Aust Pediatr J 23: 67.
5. Rajantie J (1981) Orotic aciduria in lysinuric protein intolerance: Dependence on urea cycle intermediates. Pediatr Res 15: 115-119.
6. Rimoldi M, Bergomi P, Romeo A, DiDonato S (1994) A new stable isotope dilution method for measurement of orotic acid utilizing solvent extracted urine. J Inher Metab Dis 17: 243-244.
7. Sebaster I, Fairbanks LD, Davies PM, Simmonds HA, Leonard JV (1994) The allopurinol loading test for the identification of carriers for ornithine carbamoyl transferase deficiency: studies in a healthy control population and females at risk. Clin Chim Acta 224: 45-54.
8. Shin YS, Reiter S, Zelger O, Brunstler I, Von Rucker A (1986) Orotic aciduria, homocystinuria, formiminoglutamic aciduria and megaloblastosis associated with the formiminotransferase/ cyclodeaminase deficiency. Adv Exp Med Biol 195: 71-76.
9. Simmonds HA, Webster DR, Beecroft DMO, Pooter CF (1980) Purine and pyrimidine metabolism in hereditary orotic aciduria: some unexpected effects of allopurinol. Eur J Clin Invest 10: 333-339.
10. Wood MH, O'Sullivan WJ (1973) The orotic aciduria of pregnancy. Am J Obstet Gynecol 16: 57-61.