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An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient.

作者信息

Burlina A B, Peduto A, Di Palma A, Bellizzi A, Sperlì D, Morrone A, Burlina A P

机构信息

Metabolic Unit, Department of Pediatrics, Azienda Ospedale, Università di Padova, Via Giustiniani 3, 35128, Padua, Italy.

出版信息

J Inherit Metab Dis. 2006 Feb;29(1):179-81. doi: 10.1007/s10545-006-0193-3.

DOI:10.1007/s10545-006-0193-3
PMID:16601886
Abstract

We report a male patient with a history of recurrent idiopathic vomiting, normal plasma ammonia and glutamine concentrations in acute phase, who died at 3 years of age. Ornithine transcarbamylase deficiency was diagnosed after detecting elevated urinary orotate concentrations in a sample collected just before death, and the diagnosis was confirmed by DNA analysis.

摘要

相似文献

1
An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient.
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2
Amino acid and DNA analyses in a family with ornithine transcarbamylase deficiency.一个患有鸟氨酸转氨甲酰酶缺乏症的家族的氨基酸和DNA分析。
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[Changes of urinary excretion of orotic acid in a patient with ornithine carbamyl transferase deficiency].
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Urinary Uracil: A Useful Marker for Ornithine Transcarbamylase Deficiency in Affected Males.尿中尿嘧啶：男性鸟氨酸氨甲酰基转移酶缺乏症的有用标志物。
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Food triggers and inherited metabolic disorders: a challenge to the pediatrician.食物诱因与遗传性代谢紊乱：儿科医生面临的挑战。
Ital J Pediatr. 2018 Jan 25;44(1):18. doi: 10.1186/s13052-018-0456-2.
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Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.鸟氨酸转氨甲酰酶缺乏症的基因型-表型相关性：突变更新

本文引用的文献

1
Mechanisms of hyperammonemia.高氨血症的机制。
Clin Chem Lab Med. 2002 Jul;40(7):653-62. doi: 10.1515/CCLM.2002.112.
2
Laboratory evaluation of urea cycle disorders.
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3
Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype.鸟氨酸转氨甲酰酶缺乏症的基因型谱：与临床和生化表型的相关性。
Am J Med Genet. 2000 Aug 14;93(4):313-9. doi: 10.1002/1096-8628(20000814)93:4<313::aid-ajmg11>3.0.co;2-m.
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4
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J Pediatr. 2014 Apr;164(4):720-725.e6. doi: 10.1016/j.jpeds.2013.12.024. Epub 2014 Jan 30.
4
Four new mutations in the ornithine transcarbamylase gene.鸟氨酸转氨甲酰酶基因中的四个新突变。
Biochem Med Metab Biol. 1993 Oct;50(2):169-75. doi: 10.1006/bmmb.1993.1058.
5
Recurrent episodes of bizarre behavior in a boy with ornithine transcarbamylase deficiency: diagnostic failure of protein loading and allopurinol challenge tests.一名患有鸟氨酸转氨甲酰酶缺乏症男孩的反复怪异行为发作：蛋白质负荷试验和别嘌呤醇激发试验的诊断失败
J Pediatr. 1994 Aug;125(2):249-51. doi: 10.1016/s0022-3476(94)70205-5.