3-HYDROXYISOBUTYRIC ACIDURIA - AN INBORN ERROR OF VALINE METABOLISM
3-HYDROXYISOBUTYRIC ACIDURIA - AN INBORN ERROR OF VALINE METABOLISM
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DOI：
10.1203/00006450-199110000-00006
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发表时间：
1991-10-01
影响因子：
3.6
通讯作者：
SWEETMAN, L
中科院分区：
文献类型：
--
作者：
KO, FJ;NYHAN, WL;SWEETMAN, L
3-羟异丁酸尿症是一种缬氨酸代谢障碍，在1例男孩中发现，其临床表现为典型的有机酸血症，伴有酮症酸中毒反复发作，需要住院和肠外液体治疗，沿着令人印象深刻的发育不良和慢性乳酸血症。 3-羟基异丁酸的排泄范围为170 - 390 mmol/mol肌酐。 缬氨酸的管理增加到18 700 mmol/mol的肌酐和再现的酮症酸中毒的临床图片。 游离肉毒碱浓度低，酯化肉毒碱升高。 治疗与肉毒碱和饮食限制蛋白质似乎是有益的。
3-Hydroxyisobutyric aciduria, a disorder of valine metabolism, has been found in a boy in whom the clinical picture was that of a typical organic acidemia with repeated episodes of ketoacidosis requiring admission to hospital and parenteral fluid therapy, along with impressive failure to thrive and chronic lactic acidemia. The excretion of 3-hydroxyisobutyric acid ranged from 170 to 390 mmol/mol of creatinine. The administration of valine increased this to 18 700 mmol/mol of creatinine and reproduced the clinical picture of ketoacidosis. Concentrations of free carnitine were low, and esterified carnitine was elevated. Treatment with carnitine and a diet restricted in protein appeared to be beneficial.