How reliable is the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency?

Journal of Inherited Metabolic Disease

Volumn 27, Issue 2, 2004, Pages 179-186

  Grünewald, Stephanie ^a,b   Fairbanks, L ^c   Genet, S ^d   Cranston, T ^d   Husing J ^e   Leonard, J V ^a   Champion, M P ^c  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY HOSPITAL ESSEN   (Germany)

^c GUY S HOSPITAL   (United Kingdom)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^e UNIVERSITY OF DUISBURG ESSEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALLOPURINOL; ORNITHINE CARBAMOYLTRANSFERASE; OROTIC ACID; OROTIDINE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC VALUE; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; ENZYME ANALYSIS; FEMALE; GENETIC COUNSELING; GENOTYPE; HETEROZYGOTE; HETEROZYGOTE DETECTION; HIGH RISK POPULATION; HUMAN; LOADING TEST; MUTATIONAL ANALYSIS; NON INVASIVE MEASUREMENT; PEDIGREE; RELIABILITY; RETROSPECTIVE STUDY; SAFETY; SENSITIVITY AND SPECIFICITY; URINALYSIS;

EID: 2942568154     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000028727.77454.bd     Document Type: Article

References (33)

1. Arn PH, Hauser ER, Thomas GH, et al (1990) Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus. A cause of postpartum coma. N Engl J Med 322: 1652-1655.
2. Arranz JA, Riudor E, Rodes M, et al (1999) Optimization of allopurinol challenge: sample purification, protein intake control, and the use of orotidine response as a discriminative variable improve performance of the test for diagnosing ornithine carbamoyltransferase deficiency. Clin Chem 45: 995-1001.
3. Ausems MG, Bakker E, Berger R, et al (1997) Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family. Am J Med Genet 68: 236-269.
4. Barshop BA, Nyhan WL, Climent C, et al (2001) Pitfalls in the detection of heterozygosity by allopurinol in a variant form of ornithine carbamoyltransferase deficiency. J Inherit Metab Dis 24: 513-514.
5. Batshaw ML, Msall M, Beaudet AL, et al (1986) Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency. J Pediatr 108: 236-241.
6. Becroft DM, Barry DM, Webster DR, et al (1984) Failure of protein loading tests to identify heterozygosity for ornithine carbamoyltransferase deficiency. J Inherit Metab Dis 7: 157-159.
7. Bonham JR, Guthrie P, Downing M, et al (1999) The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease. J Inherit Metab Dis 22: 174-184.
8. Bowling F, McGown I, McGill J, et al (1999) Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency. Am J Med Genet 85: 452-454.
9. Burlina AB, Ferrari V, Dionisi-Vici C, et al (1992) Allopurinol challenge test in children. J Inherit Metab Dis 15: 707-712.
10. Brusilow SW, Horwich AL (2001) Urea cycle enzymes. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 1909-1963.
11. Butterworth RF (1998) Evidence for a central cholinergic deficit in congenital ornithine transcarbamylase deficiency. Dev Neurosci 20: 478-484.
12. Carpenter KH, Potter M, Hammond JW, et al (1997) Benign persistent orotic aciduria and the possibility of misdiagnosis of ornithine carbamoyltransferase deficiency. J Inherit Metab Dis 20: 354-358.
13. Fox RM, Rosey-Smith D, O'Sullivan WJ (1970) Orotidinuria induced by allopurinol. Science 168: 861-862.
14. Genet S, Cranston T, Middleton-Price HR (2000) Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations. J Inherit Metab Dis 23: 669-676.
15. Haan EA, Danks DM, Grimes A, et al (1982) Carrier detection in ornithine transcarbamylase deficiency. J Inherit Metab Dis 5: 37-40.
16. Hauser ER, Finkelstein JE, Valle D, et al (1990) Allopurinol-induced orotidinuria. A test for mutations at the ornithine carbamoyltransferase locus in women. N Engl J Med 322: 1641-1645.
17. Hokanson JT, O'Brien WE, Idemoto J, et al (1978) Carrier detection in ornithine transcarbamylase deficiency. J Pediatr 93: 75-78.
18. MacKenzie AE, MacLeod HL, Heick HM, et al (1989) False positive results from the alanine loading test for ornithine carbamoyltransferase deficiency heterozygosity. J Pediatr 115: 605-608.
19. Maestri NE, Brusilow SW, Clissold DB, et al (1996) Long-term treatment of girls with ornithine transcarbamylase deficiency. N Engl J Med 335: 855-859.
20. Maestri NE, Lord C, Glynn M, et al (1998) The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency. Medicine (Baltimore) 77: 389-397.
21. Ng WG, Oizumi J, Koch R, et al (1981) Carrier detection of urea cycle disorders. Pediatrics 68: 448-452.
22. Nicolaides P, Liebsch D, Dale N, et al (2002) Neurological outcome of patients with ornithine carbamoyltransferase deficiency. Arch Dis Child 86: 54-56.
23. Nishiyori A, Yoshio M, Kato H, et al (1997) The R40H mutation in a late onset type of human ornithine transcarbamylase deficiency in male patients. Hum Genet 99: 171-176.
24. Oexle K, Bonafe L, Steinmann B (2002) Remark on utility and error rates of the allopurinol test in detecting mild ornithine transcarbamylase deficiency. Mol Genet Metab 76: 71-75.
25. Potter M, Hammond JW, Sim KG, et al (2001) Ornithine carbamoyltransferase deficiency: improved sensitivity of testing for protein tolerance in the diagnosis of heterozygotes. J Inherit Metab Dis 24: 5-14.
26. Pridmore CL, Clarke JT, Blaser S (1995) Ornithine transcarbamylase deficiency in females: an often overlooked cause of treatable encephalopathy. J Child Neurol 10: 369-374.
27. Scaglia F, Zheng Q, O'Brien WE, et al (2002) An integrated approach to the diagnosis and prospective management of partial ornithine transcarbamylase deficiency. Pediatrics 109: 150-152.
28. Sebesta I, Fairbanks LD, Davies PM, et al (1994a) The allopurinol loading test for identification of carriers for ornithine carbamoyl transferase deficiency: studies in a healthy control population and females at risk. Clin Chim Acta 24: 45-54.
29. Sebesta I, Krijt J, Fairbanks LD, et al (1994b) The allopurinol loading test in detecting obligate heterozygotes for OTC deficiency. J Inherit Metab Dis 17: 133-134.
30. Tuchman M, Knopman DS, Shih VE (1990) Episodic hyperammonemia in adult siblings with hyperomithinemia, hyperammonemia, and homocitrullinuria syndrome. Arch Neurol 47: 1134-1137.
31. Tuchman M, Plante RJ, Garcia-Perez MA, et al (1996) Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families. Hum Genet 97: 274-276.
32. Tuchman M, Jaleel N, Morizono H, et al (2002) Mutations and polymorphisms in the human ornithine transcarbamylase gene. Hum Mutat 19: 93-107.
33. Yudkoff M, Daikhin Y, Ye X, et al (1998) In vivo measurement of ureagenesis with stable isotopes. J Inherit Metab Dis 21: 21-29.