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一名丙酮酸脱氢酶缺乏症患者出现高氨血症和乳酸性酸中毒。

Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency.

作者信息

Brown G K, Scholem R D, Hunt S M, Harrison J R, Pollard A C

机构信息

Department of Paediatrics, University of Melbourne, Australia.

出版信息

J Inherit Metab Dis. 1987;10(4):359-66. doi: 10.1007/BF01799978.

DOI:10.1007/BF01799978
PMID:3126355
Abstract

A patient who presented in the newborn period with severe lactic acidosis and hyperammonaemia has been shown to have a specific defect in the pyruvate dehydrogenase complex. The secondary inhibition of ureagenesis in this patient appears to be due to a functional deficiency of carbamyl phosphate synthetase.

摘要

一名在新生儿期出现严重乳酸酸中毒和高氨血症的患者已被证明丙酮酸脱氢酶复合物存在特定缺陷。该患者尿素生成的继发性抑制似乎是由于氨甲酰磷酸合成酶功能缺陷所致。

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1
Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency.一名丙酮酸脱氢酶缺乏症患者出现高氨血症和乳酸性酸中毒。
J Inherit Metab Dis. 1987;10(4):359-66. doi: 10.1007/BF01799978.
2
Neonatal pyruvate dehydrogenase deficiency with lipoate responsive lactic acidaemia and hyperammonaemia.新生儿丙酮酸脱氢酶缺乏症伴硫辛酸反应性乳酸性酸中毒和高氨血症。
Eur J Pediatr. 1989 Apr;148(6):543-7. doi: 10.1007/BF00441554.
3
Defect in the X-lipoyl-containing component of the pyruvate dehydrogenase complex in a patient with neonatal lactic acidemia.一名新生儿乳酸血症患者丙酮酸脱氢酶复合物含硫辛酰基的X组分存在缺陷。
Pediatrics. 1996 Feb;97(2):267-72.
4
Fatal lactic acidosis in a newborn attributable to a congenital defect of pyruvate dehydrogenase.新生儿因丙酮酸脱氢酶先天性缺陷导致的致命性乳酸性酸中毒
Pediatr Res. 1976 Jan;10(1):62-6. doi: 10.1203/00006450-197601000-00012.
5
Fatal lactic acidosis due to deficiency of E1 component of the pyruvate dehydrogenase complex.丙酮酸脱氢酶复合体E1亚基缺乏所致的致死性乳酸性酸中毒
J Inherit Metab Dis. 1988;11(2):207-17. doi: 10.1007/BF01799876.
6
Congenital lactic acidosis due to a defect of pyruvate dehydrogenase complex (E1). Clinical, biochemical, nerve biopsy study and effect of therapy.丙酮酸脱氢酶复合体（E1）缺陷所致先天性乳酸性酸中毒。临床、生化、神经活检研究及治疗效果
Eur Neurol. 1990;30(3):123-7. doi: 10.1159/000117327.
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"Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis.“脑性”乳酸酸中毒：丙酮酸代谢缺陷，伴有严重脑损伤和轻微全身性酸中毒。
Eur J Pediatr. 1988 Jan;147(1):10-4. doi: 10.1007/BF00442603.
8
Deficiency of the alpha and beta subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death.一名患有乳酸性酸中毒和意外猝死患者的丙酮酸脱氢酶α和β亚基缺乏症
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Pediatr Res. 1980 Aug;14(8):956-62. doi: 10.1203/00006450-198008000-00013.
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The SR protein SC35 is responsible for aberrant splicing of the E1alpha pyruvate dehydrogenase mRNA in a case of mental retardation with lactic acidosis.在一例伴有乳酸性酸中毒的智力发育迟缓病例中，SR蛋白SC35负责丙酮酸脱氢酶E1α亚基mRNA的异常剪接。
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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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Rapid separation of particulate components and soluble cytoplasm of isolated rat-liver cells.分离大鼠肝细胞中颗粒成分和可溶性细胞质的快速方法。
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Carbamyl phosphate synthetase: studies on the mechanism of action.氨甲酰磷酸合成酶：作用机制研究
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Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.丙酮酸脱氢酶E1α缺乏症：男性和女性再次表现出差异。
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Pyruvate dehydrogenase deficiency.丙酮酸脱氢酶缺乏症
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Characterization of cDNAs encoding human pyruvate dehydrogenase alpha subunit.编码人丙酮酸脱氢酶α亚基的cDNA的特性分析
Proc Natl Acad Sci U S A. 1989 Jul;86(14):5330-4. doi: 10.1073/pnas.86.14.5330.
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Biochemical nature of pyruvate dehydrogenase complex in the patient with primary lactic acidaemia.原发性乳酸性酸中毒患者丙酮酸脱氢酶复合体的生化性质
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Mutation of the E1 alpha subunit of the pyruvate dehydrogenase complex, in relation to heterogeneity.
J Inherit Metab Dis. 1989;12(2):97-107. doi: 10.1007/BF01800710.
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Neonatal pyruvate dehydrogenase deficiency with lipoate responsive lactic acidaemia and hyperammonaemia.新生儿丙酮酸脱氢酶缺乏症伴硫辛酸反应性乳酸性酸中毒和高氨血症。
Eur J Pediatr. 1989 Apr;148(6):543-7. doi: 10.1007/BF00441554.
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Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 alpha gene.
Am J Hum Genet. 1990 Aug;47(2):286-93.
J Biol Chem. 1958 Dec;233(6):1560-4.
4
An improved method for the assay of platelet pyruvate dehydrogenase.一种改进的血小板丙酮酸脱氢酶检测方法。
Clin Chim Acta. 1980 Dec 8;108(2):219-27. doi: 10.1016/0009-8981(80)90008-x.
5
Failure of the normal ureagenic response to amino acids in organic acid-loaded rats. Proposed mechanism for the hyperammonemia of propionic and methylmalonic acidemia.有机酸负荷大鼠对氨基酸正常尿素生成反应的失败。丙酸血症和甲基丙二酸血症高氨血症的机制探讨。
J Clin Invest. 1980 Sep;66(3):484-92. doi: 10.1172/JCI109879.
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Secondary citrullinemia with hyperammonemia in four neonatal cases of pyruvate carboxylase deficiency.
Pediatrics. 1981 Dec;68(6):914.
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The genetic heterogeneity of lactic acidosis: occurrence of recognizable inborn errors of metabolism in pediatric population with lactic acidosis.乳酸性酸中毒的遗传异质性：儿科乳酸性酸中毒人群中可识别的先天性代谢缺陷的发生情况。
Pediatr Res. 1980 Aug;14(8):956-62. doi: 10.1203/00006450-198008000-00013.
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Lactic acidaemia.乳酸血症
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Low immunogenicity of the common lipoamide dehydrogenase subunit (E3) of mammalian pyruvate dehydrogenase and 2-oxoglutarate dehydrogenase multienzyme complexes.哺乳动物丙酮酸脱氢酶和2-氧代戊二酸脱氢酶多酶复合物常见的硫辛酰胺脱氢酶亚基（E3）的低免疫原性。
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