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.
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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