• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

核黄素反应性乙基丙二酸-己二酸尿症

Riboflavin-responsive ethylmalonic-adipic aciduria.

作者信息

Green A, Marshall T G, Bennett M J, Gray R G, Pollitt R J

出版信息

J Inherit Metab Dis. 1985;8(2):67-70. doi: 10.1007/BF01801667.

DOI:10.1007/BF01801667
PMID:3939533
Abstract

A patient presenting with a condition resembling Reye's syndrome was found to have a urinary organic acid excretion pattern similar to those previously described in a single patient with ethylmalonic-adipic aciduria. The present patient responded clinically to riboflavin supplementation and his fibroblasts, when cultured in riboflavin-depleted medium, showed an abnormal reduction in the rate of butyrate oxidation.

摘要

一名表现出类似瑞氏综合征症状的患者，其尿有机酸排泄模式与先前报道的一名患有乙基丙二酸 - 己二酸尿症的患者相似。该患者在补充核黄素后临床症状有所改善，并且其成纤维细胞在核黄素缺乏的培养基中培养时，丁酸氧化速率出现异常降低。

相似文献

1
Riboflavin-responsive ethylmalonic-adipic aciduria.核黄素反应性乙基丙二酸-己二酸尿症
J Inherit Metab Dis. 1985;8(2):67-70. doi: 10.1007/BF01801667.
2
Riboflavin responsive ethylmalonic-adipic aciduria in a 9-month-old boy with liver cirrhosis, myopathy and encephalopathy.一名9个月大患有肝硬化、肌病和脑病的男童的核黄素反应性乙基丙二酸-己二酸尿症。
J Inherit Metab Dis. 1991;14(3):333-7. doi: 10.1007/BF01811696.
3
Ethylmalonic adipic aciduria--a treatable hepatomuscular disorder in two adult brothers.乙基丙二酸己二酸尿症——两名成年兄弟患有的可治疗的肝肌肉疾病。
J Hepatol. 1997 Feb;26(2):433-6. doi: 10.1016/s0168-8278(97)80063-3.
4
Ethylmalonic/adipic aciduria: effects of oral medium-chain triglycerides, carnitine, and glycine on urinary excretion of organic acids, acylcarnitines, and acylglycines.乙基丙二酸/己二酸尿症：口服中链甘油三酯、肉碱和甘氨酸对有机酸、酰基肉碱和酰基甘氨酸尿排泄的影响。
Pediatr Res. 1991 Sep;30(3):216-21. doi: 10.1203/00006450-199109000-00002.
5
Possible deleterious effect of L-carnitine supplementation in a patient with mild multiple acyl-CoA dehydrogenation deficiency (ethylmalonic-adipic aciduria).补充左旋肉碱对一名轻度多种酰基辅酶A脱氢酶缺乏症（乙基丙二酸 - 己二酸尿症）患者可能产生的有害影响。
J Inherit Metab Dis. 1991;14(5):691-7. doi: 10.1007/BF01799937.
6
Sudden infant death syndrome and multiple acyl-coenzyme A dehydrogenase deficiency, ethylmalonic-adipic aciduria, or systemic carnitine deficiency.婴儿猝死综合征与多种酰基辅酶A脱氢酶缺乏症、乙基丙二酸-己二酸尿症或全身性肉碱缺乏症。
J Pediatr. 1987 Jun;110(6):881-4. doi: 10.1016/s0022-3476(87)80401-8.
7
Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy.乙基丙二酸尿症：一种伴有中枢神经系统受累和血管病变的有机酸血症。
Brain Dev. 1994 Nov;16 Suppl:12-22. doi: 10.1016/0387-7604(94)90092-2.
8
C6-C10-dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects.C6 - C10 - 二羧酸尿症：一名对核黄素反应性多种酰基辅酶A脱氢酶缺陷患者的研究
Pediatr Res. 1982 Oct;16(10):861-8. doi: 10.1203/00006450-198210000-00012.
9
Electron-transferring flavoprotein deficiency in the multiple acyl-CoA dehydrogenation disorders, glutaric aciduria type II and ethylmalonic--adipic aciduria.多种酰基辅酶A脱氢酶缺乏症（戊二酸尿症II型和乙基丙二酸 - 己二酸尿症）中的电子传递黄素蛋白缺乏症。
J Inherit Metab Dis. 1984;7 Suppl 2:99-100. doi: 10.1007/978-94-009-5612-4_24.
10
Stridor as the major presenting symptom in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.喘鸣作为核黄素反应性多种酰基辅酶A脱氢酶缺乏症的主要表现症状。
Eur J Pediatr. 1997 Oct;156(10):800-2. doi: 10.1007/s004310050717.

引用本文的文献

1
Recognition and management of fatty acid oxidation defects: a series of 107 patients.脂肪酸氧化缺陷的识别与管理：107例患者系列研究
J Inherit Metab Dis. 1999 Jun;22(4):488-502. doi: 10.1023/a:1005556207210.
2
The diagnosis and biochemical investigation of a patient with a short chain fatty acid oxidation defect.
J Inherit Metab Dis. 1985;8 Suppl 2:135-6. doi: 10.1007/BF01811496.
3
Riboflavin-responsive defects of beta-oxidation.核黄素反应性β氧化缺陷
J Inherit Metab Dis. 1985;8 Suppl 1:65-9. doi: 10.1007/BF01800662.

本文引用的文献

1
Gas-chromatographic method of analysis for urinary organic acids. II. Description of the procedure, and its application to diagnosis of patients with organic acidurias.尿液有机酸的气相色谱分析法。II. 方法描述及其在有机酸尿症患者诊断中的应用
Clin Chem. 1980 Dec;26(13):1847-53.
2
Riboflavin-responsive lipid myopathy and carnitine deficiency.核黄素反应性脂质肌病和肉碱缺乏症
Neurology. 1981 Dec;31(12):1557-9. doi: 10.1212/wnl.31.12.1557.
3
In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase.
4
Inherited disorders of straight chain fatty acid oxidation.直链脂肪酸氧化的遗传性疾病。
Arch Dis Child. 1987 Jan;62(1):6-7. doi: 10.1136/adc.62.1.6.
5
The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts.多种酰基辅酶A脱氢酶缺乏症，即II型戊二酸尿症和乙基丙二酸-己二酸尿症。成纤维细胞中的线粒体脂肪酸氧化、酰基辅酶A脱氢酶及电子传递黄素蛋白活性。
J Clin Invest. 1986 Jul;78(1):205-13. doi: 10.1172/JCI112553.
6
The inborn errors of mitochondrial fatty acid oxidation.线粒体脂肪酸氧化的先天性代谢缺陷。
J Inherit Metab Dis. 1987;10 Suppl 1:159-200. doi: 10.1007/BF01812855.
7
Disorders of mitochondrial beta-oxidation: prenatal and early postnatal diagnosis and their relevance to Reye's syndrome and sudden infant death.线粒体β-氧化紊乱：产前及产后早期诊断及其与瑞氏综合征和婴儿猝死的相关性
J Inherit Metab Dis. 1989;12 Suppl 1:215-30. doi: 10.1007/BF01799297.
8
A comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts.用[9,10-3H]棕榈酸和[9,10-3H]肉豆蔻酸检测完整培养成纤维细胞中脂肪酸氧化缺陷的比较
J Inherit Metab Dis. 1990;13(1):58-68. doi: 10.1007/BF01799333.
9
Possible deleterious effect of L-carnitine supplementation in a patient with mild multiple acyl-CoA dehydrogenation deficiency (ethylmalonic-adipic aciduria).补充左旋肉碱对一名轻度多种酰基辅酶A脱氢酶缺乏症（乙基丙二酸 - 己二酸尿症）患者可能产生的有害影响。
J Inherit Metab Dis. 1991;14(5):691-7. doi: 10.1007/BF01799937.
对一名患有C6 - C10 - 二羧酸尿症患者的成纤维细胞进行的体外研究：一般酰基辅酶A脱氢酶缺陷的证据。
Clin Chim Acta. 1982 Nov 24;126(1):53-67. doi: 10.1016/0009-8981(82)90361-8.
4
Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation.培养的成纤维细胞中脂肪酸的氧化：用于检测和研究氧化缺陷的模型系统。
Pediatr Res. 1982 Oct;16(10):877-81. doi: 10.1203/00006450-198210000-00015.
5
C6-C10-dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects.C6 - C10 - 二羧酸尿症：一名对核黄素反应性多种酰基辅酶A脱氢酶缺陷患者的研究
Pediatr Res. 1982 Oct;16(10):861-8. doi: 10.1203/00006450-198210000-00012.
6
Glutaric acidemia type II: clinical, biochemical, and morphologic considerations.II型戊二酸血症：临床、生化及形态学考量
J Pediatr. 1982 Jun;100(6):946-50. doi: 10.1016/s0022-3476(82)80525-8.
7
Multiple acyl-CoA dehydrogenase deficiency occurring in pregnancy and caused by a defect in riboflavin metabolism in the mother. Study of a kindred with seven deaths in infancy: Value of riboflavin therapy in preventing this syndrome.孕期发生的多种酰基辅酶A脱氢酶缺乏症，由母亲核黄素代谢缺陷引起。对一个有七名婴儿死亡的家族的研究：核黄素治疗对预防该综合征的价值。
J Pediatr. 1983 Sep;103(3):394-8. doi: 10.1016/s0022-3476(83)80410-7.
8
The urinary excretion of ethylmalonic acid: what level requires further attention?乙基丙二酸的尿排泄：何种水平需要进一步关注？
Biochem Med. 1983 Apr;29(2):171-5. doi: 10.1016/0006-2944(83)90037-6.
9
Diagnosis of organic acidemias by gas chromatography--mass spectrometry.通过气相色谱-质谱联用技术诊断有机酸血症。
Lab Res Methods Biol Med. 1981;6:1-158.
10
General (medium-chain) acyl-CoA dehydrogenase deficiency (non-ketotic dicarboxylic aciduria): quantitative urinary excretion pattern of 23 biologically significant organic acids in three cases.一般型（中链）酰基辅酶A脱氢酶缺乏症（非酮症性二羧酸尿症）：三例患者23种具有生物学意义的有机酸的尿排泄定量模式
Clin Chim Acta. 1983 Aug 15;132(2):181-91. doi: 10.1016/0009-8981(83)90246-2.