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人类丙酮酸脱羧酶活性缺失：先天性乳酸性酸中毒的一个病因。

Absence of pyruvate decarboxylase activity in man: a cause of congenital lactic acidosis.

作者信息

Farrell D F, Clark A F, Scott C R, Wennberg R P

出版信息

Science. 1975 Mar 21;187(4181):1082-4. doi: 10.1126/science.803713.

DOI:10.1126/science.803713
PMID:803713
Abstract

A complete deficiency in the pyruvate dehydrogenase system activity contributed to the death of a 6-month-old infant with congenital lactic acidosis. The enzymatic block could be isolated to the first component, pyruvate decarboxylase (E1) of the pyruvate dehydrogenase complex. This enzymatic deficiency allowed a demonstration of an "intercomplex" exchange of the components of the mammalian pyruvate dehydrogenase system and indicated that the first component is normally present in an apparent excess.

摘要

丙酮酸脱氢酶系统活性的完全缺乏导致了一名患有先天性乳酸性酸中毒的6个月大婴儿的死亡。酶促阻断可归因于丙酮酸脱氢酶复合体的第一个组分，即丙酮酸脱羧酶（E1）。这种酶缺乏症证明了哺乳动物丙酮酸脱氢酶系统各组分之间的“复合体间”交换，并表明第一个组分通常以明显过量的形式存在。

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1
Absence of pyruvate decarboxylase activity in man: a cause of congenital lactic acidosis.人类丙酮酸脱羧酶活性缺失：先天性乳酸性酸中毒的一个病因。
Science. 1975 Mar 21;187(4181):1082-4. doi: 10.1126/science.803713.
2
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.
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[A case of congenital lactic acidosis caused by deficiency of pyruvate dehydrogenase].[一例因丙酮酸脱氢酶缺乏导致的先天性乳酸性酸中毒病例]
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Partial pyruvate decarboxylase deficiency with profound lactic acidosis and hyperammonemia: responses to dichloroacetate and benzoate.伴有严重乳酸酸中毒和高氨血症的部分丙酮酸脱羧酶缺乏症：对二氯乙酸和苯甲酸盐的反应
Am J Med Genet. 1985 Oct;22(2):291-9. doi: 10.1002/ajmg.1320220211.
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Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathy.对28例患有乳酸酸中毒且与 Leigh 脑脊髓病相关的儿童进行的生化研究。
Eur J Pediatr. 1985 Mar;143(4):278-83. doi: 10.1007/BF00442301.
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Biochemical properties of mammalian 2-oxo acid dehydrogenase multienzyme complexes and clinical relevancy with chronic lactic acidosis.哺乳动物2-氧代酸脱氢酶多酶复合物的生化特性及其与慢性乳酸酸中毒的临床相关性。
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Gas chromatographic and mass spectrometric studies on urinary organic acids in a patient with congenital lactic acidosis due to pyruvate decarboxylase deficiency.对一名因丙酮酸脱羧酶缺乏导致先天性乳酸性酸中毒患者尿液有机酸的气相色谱和质谱研究。
Clin Chim Acta. 1977 Jun 1;77(2):117-24. doi: 10.1016/0009-8981(77)90018-3.
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Problems in the congenital lactic acidoses.先天性乳酸性酸中毒的问题。
Ciba Found Symp. 1982;87:340-56. doi: 10.1002/9780470720691.ch19.
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Congenital lactic acidosis associated with pyruvate carboxylase deficiency. Repository identification No. GM6056.与丙酮酸羧化酶缺乏相关的先天性乳酸性酸中毒。储存库识别号GM6056。
Cytogenet Cell Genet. 1984;38(1):80. doi: 10.1159/000132035.
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Urinary organic acids in a case of congenital lactic acidosis due to pyruvate decarboxylase deficiency.一例因丙酮酸脱羧酶缺乏导致的先天性乳酸酸中毒患者的尿有机酸分析
J Inherit Metab Dis. 1978;1(1):15-6. doi: 10.1007/BF01805708.

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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。
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The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.
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Mol Genet Metab. 2012 Jan;105(1):34-43. doi: 10.1016/j.ymgme.2011.09.032. Epub 2011 Oct 7.
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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.
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Pyruvate-dehydrogenase complex in ataxic patients: enzyme deficiency in ataxic encephalopathy plus lactic acidosis and normal activity in Friedreich ataxia.
Ital J Neurol Sci. 1982 Dec;3(4):317-21. doi: 10.1007/BF02043580.
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J Inherit Metab Dis. 1984;7 Suppl 1:79-89. doi: 10.1007/BF03047380.
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