一名患有二氢硫辛酰胺脱氢酶缺乏症女孩的乳酸性酸中毒、神经功能恶化及碳水化合物依赖 - Suppr

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Lactic acidemia, neurologic deterioration and carbohydrate dependence in a girl with dihydrolipoyl dehydrogenase deficiency.

作者信息

Robinson B H, Taylor J, Kahler S G, Kirkman H N

出版信息

Eur J Pediatr. 1981 Mar;136(1):35-9. doi: 10.1007/BF00441708.

DOI:10.1007/BF00441708

PMID:6894281

Abstract

摘要

相似文献

Lactic acidemia, neurologic deterioration and carbohydrate dependence in a girl with dihydrolipoyl dehydrogenase deficiency.一名患有二氢硫辛酰胺脱氢酶缺乏症女孩的乳酸性酸中毒、神经功能恶化及碳水化合物依赖

Eur J Pediatr. 1981 Mar;136(1):35-9. doi: 10.1007/BF00441708.

Pyruvate dehydrogenase subcomplex with lipoamide dehydrogenase deficiency in a patient with lactic acidosis and branched chain ketoaciduria.一名患有乳酸性酸中毒和支链酮酸尿症的患者存在丙酮酸脱氢酶亚复合物伴硫辛酰胺脱氢酶缺乏症。

Clin Chim Acta. 1984 Jun 27;140(1):59-64. doi: 10.1016/0009-8981(84)90151-7.

Congenital lactic acidosis, alpha-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect: dihydrolipoyl dehydrogenase deficiency.先天性乳酸酸中毒、α-酮戊二酸尿症以及由于单一酶缺陷导致的枫糖尿症变异型：二氢硫辛酰胺脱氢酶缺乏症

Acta Paediatr Scand. 1982 Jan;71(1):167-71. doi: 10.1111/j.1651-2227.1982.tb09393.x.

Lipoamide dehydrogenase deficiency with primary lactic acidosis: favorable response to treatment with oral lipoic acid.伴有原发性乳酸性酸中毒的硫辛酰胺脱氢酶缺乏症：口服硫辛酸治疗反应良好。

J Pediatr. 1984 Jan;104(1):65-9. doi: 10.1016/s0022-3476(84)80591-0.

Deficiency of dihydrolipoyl dehydrogenase (a component of the pyruvate and alpha-ketoglutarate dehydrogenase complexes): a cause of congenital chronic lactic acidosis in infancy.二氢硫辛酰胺脱氢酶（丙酮酸和α-酮戊二酸脱氢酶复合体的一个组分）缺乏：婴儿期先天性慢性乳酸性酸中毒的一个病因。

Pediatr Res. 1977 Dec;11(12):1198-202. doi: 10.1203/00006450-197712000-00006.

[Pyruvate-dehydrogenase deficiency. Lethal course of the disease during infancy (author's transl)].

Monatsschr Kinderheilkd (1902). 1978 Mar;126(3):140-7.

Immunochemical analysis of pyruvate dehydrogenase complex in 2 boys with primary lactic acidemia.对2名原发性乳酸性血症男孩的丙酮酸脱氢酶复合物进行免疫化学分析。

Neurology. 1990 Aug;40(8):1312-4. doi: 10.1212/wnl.40.8.1312.

Deficiency of the pyruvate dehydrogenase component in pyruvate dehydrogenase complex-deficient human fibroblasts. Immunological identification.丙酮酸脱氢酶复合体缺乏的人类成纤维细胞中丙酮酸脱氢酶成分的缺乏。免疫学鉴定。

J Clin Invest. 1986 Sep;78(3):844-7. doi: 10.1172/JCI112651.

Disorders of the pyruvate dehydrogenase complex.丙酮酸脱氢酶复合体紊乱

J Inherit Metab Dis. 1986;9(2):105-19. doi: 10.1007/BF01799447.

Leigh disease with deficiency of lipoamide dehydrogenase: treatment failure with dichloroacetate.伴有硫辛酰胺脱氢酶缺乏的 Leigh 病：二氯乙酸治疗失败

Pediatr Neurol. 1996 Jan;14(1):69-71. doi: 10.1016/0887-8994(96)00005-7.

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Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency.二氢硫辛酰胺脱氢酶缺乏症患者的生化特征

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The Effects of a Ketogenic Diet on Patients with Dihydrolipoamide Dehydrogenase Deficiency.生酮饮食对二氢硫辛酰胺脱氢酶缺乏症患者的影响。

Nutrients. 2021 Oct 7;13(10):3523. doi: 10.3390/nu13103523.

Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency.女孩患 Leigh 综合征，携带导致 E3 缺乏的新型 DLD 突变。

Pediatr Neurol. 2013 Jan;48(1):67-72. doi: 10.1016/j.pediatrneurol.2012.09.013.

The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.丙酮酸脱氢酶复合物缺陷症谱：371 例患者的临床、生化和遗传学特征。

Mol Genet Metab. 2012 Jul;106(3):385-94. doi: 10.1016/j.ymgme.2012.03.017.

The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.丙酮酸脱氢酶复合物缺陷症的谱：371 例患者的临床、生化和遗传特征。

Mol Genet Metab. 2012 Jan;105(1):34-43. doi: 10.1016/j.ymgme.2011.09.032. Epub 2011 Oct 7.

Targeted disruption of the murine dihydrolipoamide dehydrogenase gene (Dld) results in perigastrulation lethality.对小鼠二氢硫辛酰胺脱氢酶基因（Dld）进行靶向破坏会导致原肠胚形成期致死。

Proc Natl Acad Sci U S A. 1997 Dec 23;94(26):14512-7. doi: 10.1073/pnas.94.26.14512.

Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient.在一名二氢硫辛酰胺脱氢酶缺乏症患者中鉴定出两个错义突变。

Proc Natl Acad Sci U S A. 1993 Jun 1;90(11):5186-90. doi: 10.1073/pnas.90.11.5186.

Detection of heterozygotes in maple-syrup-urine disease: measurements of branched-chain alpha-ketoacid dehydrogenase and its components in cell cultures.枫糖尿症杂合子的检测：细胞培养物中支链α-酮酸脱氢酶及其组分的测定

Am J Hum Genet. 1982 May;34(3):416-24.

[Diagnostic significance of muscle biopsies in metabolic myopathies. II. Clinical biochemistry].[肌肉活检在代谢性肌病中的诊断意义。II. 临床生物化学]

Klin Wochenschr. 1984 Jul 16;62(14):651-8. doi: 10.1007/BF01716461.

Organic acids in urine of patients with congenital lactic acidoses: an aid to differential diagnosis.先天性乳酸性酸中毒患者尿液中的有机酸：对鉴别诊断的辅助作用。

J Inherit Metab Dis. 1984;7 Suppl 1:79-89. doi: 10.1007/BF03047380.

本文引用的文献

Subacute necrotizing encephalomyelopathy in an infant.一名婴儿的亚急性坏死性脑脊髓病

J Neurol Neurosurg Psychiatry. 1951 Aug;14(3):216-21. doi: 10.1136/jnnp.14.3.216.

Glucose-6-phosphatase deficiency glycogen storage disease. Studies on the interrelationships of carbohydrate, lipid, and purine abnormalities.葡萄糖-6-磷酸酶缺乏性糖原贮积病。碳水化合物、脂质和嘌呤异常之间相互关系的研究。

Pediatrics. 1962 Apr;29:553-65.

Phosphoenolpyruvate carboxykinase and pyruvate carboxylase in developing rat liver.发育中大鼠肝脏中的磷酸烯醇式丙酮酸羧激酶和丙酮酸羧化酶

Biochem J. 1967 Sep;104(3):866-71. doi: 10.1042/bj1040866.

A simplified method for the preparation of 14 C-labelled branched-chain -oxo acids.一种制备¹⁴C标记的支链α-氧代酸的简化方法。

Biochem J. 1972 Jan;126(2):445-6. doi: 10.1042/bj1260445.

Studies on the mechanism of activation of adipose tissue pyruvate dehydrogenase by insulin.胰岛素激活脂肪组织丙酮酸脱氢酶的机制研究。

J Biol Chem. 1973 Jan 10;248(1):73-81.

Regulation of renal gluconeogenesis by calcium ions, hormones and adenosine 3':5'-cyclic monophosphate.钙离子、激素及3':5'-环磷酸腺苷对肾糖异生的调节作用

Biochem J. 1973 May;134(1):157-65. doi: 10.1042/bj1340157.

Hepatic fructose-1,6-diphosphatase deficiency. A cause of lactic acidosis and hypoglycemia in infancy.肝果糖-1,6-二磷酸酶缺乏症。婴儿期乳酸酸中毒和低血糖的一个病因。

J Clin Invest. 1972 Aug;51(8):2115-23. doi: 10.1172/JCI107018.

A defect in pyruvate decarboxylase in a child with an intermittent movement disorder.一名患有间歇性运动障碍儿童的丙酮酸脱羧酶缺陷。

J Clin Invest. 1970 Mar;49(3):423-32. doi: 10.1172/JCI106251.

Hereditary mitochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debré syndrome, and a defective respiratory chain in voluntary striated muscles.伴有乳酸性血症的遗传性线粒体肌病、德托尼 - 范科尼 - 德布勒综合征以及随意横纹肌呼吸链缺陷。

Pediatr Res. 1977 Oct;11(10 Pt 2):1088-93. doi: 10.1203/00006450-197711100-00005.

Neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in two siblings.两名兄弟姐妹患丙酮酸羧化酶缺乏症的新生儿先天性乳酸酸中毒

Acta Paediatr Scand. 1976 Nov;65(6):717-24. doi: 10.1111/j.1651-2227.1976.tb18009.x.

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