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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。

Lipoamide dehydrogenase deficiency with primary lactic acidosis: favorable response to treatment with oral lipoic acid.

作者信息

Matalon R, Stumpf D A, Michals K, Hart R D, Parks J K, Goodman S I

出版信息

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

DOI:10.1016/s0022-3476(84)80591-0
PMID:6418873
Abstract

An 8-month-old boy with severe lactic acidosis was found to have lipoamide dehydrogenase deficiency. Treatment with thiamine, biotin, bicarbonate, protein restriction, and ketogenic diet failed to alleviate the lactic acidosis. Oral administration of lipoic acid 25 to 50 mg/kg produced dramatic improvement in lactic and pyruvic acidemia, which has continued for 2 years and which has been accompanied by clinical improvement.

摘要

一名患有严重乳酸性酸中毒的8个月大男孩被发现患有硫辛酰胺脱氢酶缺乏症。使用硫胺素、生物素、碳酸氢盐、蛋白质限制和生酮饮食进行治疗未能缓解乳酸性酸中毒。口服25至50毫克/千克的硫辛酸使乳酸血症和丙酮酸血症得到显著改善，这种改善持续了2年，同时伴有临床症状的改善。

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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。
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2
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