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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。

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.

作者信息

Harpey J P, Charpentier C, Goodman S I, Darbois Y, Lefèbvre G, Sebbah J

出版信息

J Pediatr. 1983 Sep;103(3):394-8. doi: 10.1016/s0022-3476(83)80410-7.

DOI:10.1016/s0022-3476(83)80410-7
PMID:6886904
Abstract

Seven infants in one kindred died: one was stillborn; the others, who were floppy at birth and were breast-fed, developed a disorder with the odor of sweaty feet and died in early infancy. In two further pregnancies, 3-hydroxvisovaleric, glutaric, and C6-C10-dicarboxylic acids were demonstrated in the mother's urine during the seventh month. Riboflavin therapy in the last trimester of pregnancy and a riboflavin-rich diet given the infants prevented this syndrome. The presence of abnormal erythrocyte glutathione-reductase activity in the mother while she excreted normal amounts of riboflavin in her urine indicates a probable disorder of riboflavin metabolism resulting in multiple acyl-CoA dehydrogenase deficiency.

摘要

一个家族中有七名婴儿死亡

一名为死产;其他婴儿出生时软弱无力,以母乳喂养,出现了有汗脚气味的病症,并在婴儿早期死亡。在另外两次妊娠中,妊娠第七个月时在母亲尿液中检测到了3-羟基戊二酸、戊二酸和C6-C10二羧酸。在妊娠晚期进行核黄素治疗并给予婴儿富含核黄素的饮食可预防此综合征。母亲尿液中核黄素排泄量正常,但红细胞谷胱甘肽还原酶活性异常,这表明可能存在核黄素代谢紊乱,导致多种酰基辅酶A脱氢酶缺乏。

相似文献

1
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.
2
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.
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A riboflavin-responsive lipid storage myopathy due to multiple acyl-CoA dehydrogenase deficiency: an adult case.一例因多种酰基辅酶A脱氢酶缺乏所致的成人核黄素反应性脂质贮积性肌病
J Neurol Sci. 1994 Nov;126(2):202-5. doi: 10.1016/0022-510x(94)90274-7.
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[A case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)].[一例核黄素反应性多种酰基辅酶A脱氢酶缺乏症(II型戊二酸尿症)]
No To Hattatsu. 2000 Mar;32(2):163-8.
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[Atypical course of a multiple acyl-CoA-dehydrogenase deficiency].[多种酰基辅酶A脱氢酶缺乏症的非典型病程]
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Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an electron transfer flavoprotein.多种酰基辅酶A脱氢酶缺乏症(II型戊二酸尿症)伴短暂性高肌氨酸血症和肌氨酸尿症;可能存在电子传递黄素蛋白的遗传性缺乏。
Pediatr Res. 1980 Jan;14(1):12-7. doi: 10.1203/00006450-198001000-00004.
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Normalization of short-chain acylcoenzyme A dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme A dehydrogenase-deficient myopathy.核黄素治疗后,一名患有多种酰基辅酶A脱氢酶缺乏性肌病的女孩的短链酰基辅酶A脱氢酶恢复正常。
Ann Neurol. 1989 May;25(5):479-84. doi: 10.1002/ana.410250510.
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[Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)].迟发性核黄素反应性多种酰基辅酶A脱氢酶缺乏症(II型戊二酸尿症)
Zhonghua Er Ke Za Zhi. 2003 Dec;41(12):916-20.
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Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy.10匹患有非典型肌病的马出现获得性多重酰基辅酶A脱氢酶缺乏症。
Neuromuscul Disord. 2008 May;18(5):355-64. doi: 10.1016/j.nmd.2008.02.007. Epub 2008 Apr 11.
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Metabolism of deuterium-labeled nonanoic acids in the riboflavin-deficient rat model of multiple acyl-CoA dehydrogenase deficiency.在核黄素缺乏的多种酰基辅酶A脱氢酶缺乏大鼠模型中氘标记壬酸的代谢
Biol Mass Spectrom. 1991 Apr;20(4):179-85. doi: 10.1002/bms.1200200404.

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Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening.新生儿筛查中母体维生素缺乏症酷似多种酰基辅酶A脱氢酶缺乏症。
Mol Genet Metab Rep. 2021 Mar 6;27:100738. doi: 10.1016/j.ymgmr.2021.100738. eCollection 2021 Jun.
2
Decreased plasma riboflavin is associated with poor prognosis, invasion, and metastasis in esophageal squamous cell carcinoma.血浆核黄素水平降低与食管鳞状细胞癌的预后不良、侵袭和转移相关。
Eur J Clin Nutr. 2020 Aug;74(8):1149-1156. doi: 10.1038/s41430-020-0585-8. Epub 2020 Feb 14.
3
Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles.
2型戊二酸尿症中的高脯氨酸血症及类多种酰基辅酶A脱氢酶缺乏症(MADD)特征
JIMD Rep. 2016;27:39-45. doi: 10.1007/8904_2015_481. Epub 2015 Sep 27.
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Diffuse leukodystrophy in an infant with cytochrome-c oxidase deficiency.一名患有细胞色素 c 氧化酶缺乏症的婴儿的弥漫性脑白质营养不良。
J Inherit Metab Dis. 1998 Oct;21(7):748-52. doi: 10.1023/a:1005497116398.
5
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.
6
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.
7
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.
8
Acyl-CoA dehydrogenase activity in the riboflavin-deficient rat. Effects of starvation.核黄素缺乏大鼠的酰基辅酶A脱氢酶活性。饥饿的影响。
Biochem J. 1987 Jun 1;244(2):387-91. doi: 10.1042/bj2440387.
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The inborn errors of mitochondrial fatty acid oxidation.线粒体脂肪酸氧化的先天性代谢缺陷。
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Neuropsychiatric manifestations of defect in mitochondrial beta oxidation response to riboflavin.线粒体β氧化对核黄素反应缺陷的神经精神表现
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