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Allopurinol challenge test in children.

作者信息

Burlina A B, Ferrari V, Dionisi-Vici C, Bordugo A, Zacchello F, Tuchman M

机构信息

Department of Pediatrics, University of Padua, Italy.

出版信息

J Inherit Metab Dis. 1992;15(5):707-12. doi: 10.1007/BF01800010.

DOI:10.1007/BF01800010
PMID:1434508
Abstract

The allopurinol challenge test was performed on 44 healthy subjects (28 children and 16 adolescents) in order to establish normal values of urinary orotic acid excretion following allopurinol ingestion in the paediatric population. The subjects were divided into three groups according to their age: 6 months to 6 years; 6 years to 10 years; and 10 years to 17 years. They were given 100 mg, 200 mg, or 300 mg of allopurinol, respectively (based on age) in a single oral dose. Maximum peak urinary orotic acid levels following ingestion of allopurinol were 13.0 (n = 14), 9.3 (n = 14), and 10.2 (n = 16) mumol/mmol creatinine in the three groups, respectively. In all children tested the peak orotic acid level was 3.1 +/- 2.7 mumol/mmol creatinine (mean +/- SD, n = 44). This allopurinol challenge test was also performed in six children with urea-cycle disorders, including five females with ornithine transcarbamylase (OTC) deficiency, all of whom demonstrated abnormally elevated levels of urinary orotic acid (peak levels of 26-134 mumol/mmol creatinine) following allopurinol ingestion.

摘要

相似文献

1
Allopurinol challenge test in children.
J Inherit Metab Dis. 1992;15(5):707-12. doi: 10.1007/BF01800010.
2
Influence of dose and age on the response of the allopurinol test for ornithine carbamoyltransferase deficiency in control infants.
J Inherit Metab Dis. 2000 Nov;23(7):662-8. doi: 10.1023/a:1005610325170.
3
The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease.
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4
Urinary excretion of orotic acid, orotidine and other pyrimidines in a patient with purine nucleoside phosphorylase deficiency.嘌呤核苷磷酸化酶缺乏症患者尿中乳清酸、乳清苷及其他嘧啶的排泄情况
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5
Allopurinol-induced orotidinuria. A test for mutations at the ornithine carbamoyltransferase locus in women.别嘌醇诱发的乳清酸尿症。一项针对女性鸟氨酸氨甲酰基转移酶基因座突变的检测。
N Engl J Med. 1990 Jun 7;322(23):1641-5. doi: 10.1056/NEJM199006073222305.
6
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. 1994 Jan 14;224(1):45-54. doi: 10.1016/0009-8981(94)90119-8.
7
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8
Cryptogenic hepatitis masking the diagnosis of ornithine transcarbamylase deficiency.
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Biochem Mol Biol Int. 1995 Mar;35(3):685-90.
10
The urinary excretion of orotic acid and orotidine, measured by an isotope dilution assay.
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引用本文的文献

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本文引用的文献

1
Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias.乳清酸排泄在尿素循环遗传性疾病及有机酸尿症所致高氨血症中的诊断价值。
Eur J Pediatr. 1980 Aug;134(2):109-13. doi: 10.1007/BF01846026.
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Orotic aciduria in lysinuric protein intolerance: dependence on the urea cycle intermediates.赖氨酸尿性蛋白不耐受症中的乳清酸尿症:对尿素循环中间产物的依赖性。
别嘌呤醇负荷试验在检测鸟氨酸转氨甲酰酶缺乏症携带者方面的可靠性如何?
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4
Allopurinol challenge tests performed before and after living-related donor liver transplantation in citrullinaemia.在活体亲属供肝肝移植前后对瓜氨酸血症患者进行别嘌呤醇激发试验。
J Inherit Metab Dis. 2003;26(1):87-8. doi: 10.1023/a:1024096001455.
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Pitfalls in the detection of heterozygosity by allopurinol in a variant form of ornithine carbamoyltransferase deficiency.
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Ornithine carbamoyltransferase deficiency: improved sensitivity of testing for protein tolerance in the diagnosis of heterozygotes.鸟氨酸氨甲酰基转移酶缺乏症:杂合子诊断中蛋白质耐受性检测的敏感性提高。
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Influence of dose and age on the response of the allopurinol test for ornithine carbamoyltransferase deficiency in control infants.
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In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle.体内尿素循环通量可区分尿素循环障碍并与其表型严重程度相关。
Proc Natl Acad Sci U S A. 2000 Jul 5;97(14):8021-6. doi: 10.1073/pnas.140082197.
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The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease.
J Inherit Metab Dis. 1999 Apr;22(2):174-84. doi: 10.1023/a:1005406205548.
10
In vivo measurement of ureagenesis with stable isotopes.用稳定同位素进行体内尿素生成的测量。
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Pediatr Res. 1981 Feb;15(2):115-9. doi: 10.1203/00006450-198102000-00006.
4
Failure of protein loading tests to identify heterozygosity for ornithine carbamoyltransferase deficiency.蛋白质负荷试验未能识别出鸟氨酸氨甲酰基转移酶缺乏症的杂合性。
J Inherit Metab Dis. 1984;7(4):157-9. doi: 10.1007/BF01805599.
5
Orotidinuria induced by allopurinol.
Science. 1970 May 15;168(3933):861-2. doi: 10.1126/science.168.3933.861.
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The orotic aciduria of pregnancy.妊娠性乳清酸尿症
Am J Obstet Gynecol. 1973 May 1;116(1):57-61. doi: 10.1016/0002-9378(73)90883-1.
7
Ornithine loading did not prevent induced hyperammonemia in a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.鸟氨酸负荷未能预防高鸟氨酸血症-高氨血症-同型瓜氨酸尿综合征患者的诱发性高氨血症。
Pediatr Res. 1985 Dec;19(12):1283-7. doi: 10.1203/00006450-198512000-00016.
8
Determination of urinary orotate excretion by high-performance liquid chromatography.采用高效液相色谱法测定尿乳清酸排泄量。
J Chromatogr. 1989 Dec 29;497:101-7. doi: 10.1016/0378-4347(89)80009-x.
9
Allopurinol-induced orotidinuria. A test for mutations at the ornithine carbamoyltransferase locus in women.别嘌醇诱发的乳清酸尿症。一项针对女性鸟氨酸氨甲酰基转移酶基因座突变的检测。
N Engl J Med. 1990 Jun 7;322(23):1641-5. doi: 10.1056/NEJM199006073222305.
10
Episodic hyperammonemia in adult siblings with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.患有高鸟氨酸血症、高氨血症和同型瓜氨酸尿症综合征的成年同胞中的发作性高氨血症
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