[1]邱进寿,吴雅云,林进皇,等.1例鸟氨酸氨甲酰转移酶缺乏症的营养治疗观察[J].肠外与肠内营养杂志,2023,(06):381-384.[doi:DOI : 10.16151/j.1007-810x.2023.06.011]
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1例鸟氨酸氨甲酰转移酶缺乏症的营养治疗观察()
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《肠外与肠内营养》杂志[ISSN:1007-810X/CN:32-1477/R]

卷:
期数:
2023年06期
页码:
381-384
栏目:
病例报告
出版日期:
2023-12-10

文章信息/Info

作者:
邱进寿1吴雅云2林进皇1郑丽玲 3
1.福建医科大学附属漳州市医院临床营养科,福建漳州363000;2.漳州高新职业技术学校医学护理系,福建漳州363000;3.福建医科大学附属漳州市医院儿童重症监护室,福建漳州363000
关键词:
鸟氨酸氨甲酰转移酶缺乏症 高氨血症 营养治疗 生长发育
分类号:
R459.3
DOI:
DOI : 10.16151/j.1007-810x.2023.06.011
文献标志码:
B

参考文献/References:


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[2] Merritt JL, Brody LL, Pino G, et al. Newborn screening forproximal urea cycle disorders: Current evidence supportingrecommendations for newborn screening. Mol Genet Metab,2018,124(2):109-113.
[3] Couchet M, Breuillard C, Corne C, et al. OrnithineTranscarbamylase - From Structure to Metabolism: An Update.Front Physio, 2021, 12:748249.
[4] Lopes FF, Sitta A, de Moura Coelho D, et al. Clinical findings of patients with hyperammonemia affected by urea cycle disorders with hepatic encephalopathy. Int J Dev Neurosci, 2022, 82 (8):772-788.
[5] Gropman AL, Prust M, Breeden A, et al. Urea cycle defects and hyperammonemia: effects on functional imaging. Metab BrainDis, 2013, 28 (2): 269-275.
[6] Burrage LC, Thistlethwaite L, Stroup BM, et al. Untargetedmetabolomic profiling reveals multiple pathway perturbationsand new clinical biomarkers in urea cycle disorders. Genet Med,2019, 21 (9):1977-1986.
[7] Krijt Jakub , Sokolová Jitka , Je?ina Pavel , et al. Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LCMS/MS assay for non-invasive diagnosis of ornithinecarbamoyltransferase deficiency. Clin Chem Lab Med, 2017, 55(8):1168-1177.
[8] Sen K, Castillo Pinto C, Gropman AL. Expanding Role of Proton Magnetic Resonance Spectroscopy: Timely Diagnosis andTreatment Initiation in Partial Ornithine TranscarbamylaseDeficiency. J Pediatr Genet, 2021, 10 (1):77-80.
[9] Committee of Clinical Biochemical Genetics, Branch of Medical Genetic Physician, Chinese Medical Doctor Association, et al.Guidelines for diagnosis, treatment and management of ureacycle disorders in China. Zhonghua Er Ke Za Zhi, 2022, 60 (11):1118-1126.
[10] 中国妇幼保健协会儿童疾病和保健分会遗传代谢学组 .鸟氨酸氨甲酰转移酶缺乏症诊治专家共识 . 浙江大学学报(医学版),2020, 49(5):539-547.
[11] Singh RH, Rhead WJ, Smith W, et al. Nutritional management ofurea cycle disorders. Crit Care Clin, 2005, 21 (4 Suppl): S27-S35.
[12] H?berle J, Burlina A, Chakrapani A, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision. J Inherit Metab Dis, 2019, 42 (6): 1192-1230.
[13] 左俊焘, 李嘉琪, 徐 瑶, 等 . 重症病人肠内营养中断现状及其对热卡达标的影响研究 . 肠外与肠内营养,2023,30(3):166-170.
[14] Andrews A, Roberts S, Botto LD. Benefits of tailored disease management in improving tremor, white matter hyperintensities, and liver enzymes in a child with heterozygous X-linked ornithine transcarbamylase deficiency. Mol Genet Metab Rep,2022, 33 (Suppl 1): 100891.
[15] Timmer C, Davids M, Nieuwdorp M, et al. Differences in faecal microbiome composition between adult patients with UCD and PKU and healthy control subjects. Mol Genet Metab Rep, 2021,29:100794
[16] 顾学范, 韩连书, 余永国 . 中国新生儿遗传代谢病筛查现状及展望 . 罕见病研究,2022,1(1):13-19.

备注/Memo

备注/Memo:
作者简介 :邱进寿,副主任医师,医学硕士,从事中西医结合内科与临床营养。E-mail:qiujinshou2006@126.com通讯作者 :郑丽玲,E-mail:zrdmzll@163.com
更新日期/Last Update: 1900-01-01