Deficiency of glycerol kinase (EC 2.7.1.30).
Deficiency of glycerol kinase (EC 2.7.1.30).
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甘油激酶缺乏（EC 2.7.1.30）。
DOI：
10.1093/clinchem/29.4.718
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发表时间：
1983
影响因子：
9.3
通讯作者：
L. von Wendt
中科院分区：
文献类型：
--
作者：
A. Eriksson;S. Lindstedt;L. Ransnäs;L. von Wendt
我们描述的情况下，一个10岁的男孩谁已承认在几个场合与胃肠炎的诊断。他病得很重，有一次失去了知觉。他在这些情况下有代谢性酸中毒。通过气相色谱-质谱法对尿液进行检查，发现一个大峰，确定为甘油。尿中甘油浓度为40-280 mmol/L，血浆中甘油浓度约为2 mmol/L。他禁食21小时，禁食结束时他表现出不适和恶心的感觉，开始呕吐，并变得嗜睡。在此期间，血糖浓度仅略微降低，血浆甘油浓度升高至4.9 mmol/L，血浆乳酸浓度升高至3.8 mmol/L。在自行车测力计上工作35分钟（40 W）期间，他主诉肌肉疼痛并出现痉挛，但血浆甘油浓度没有显著增加。白细胞和培养的成纤维细胞中甘油激酶（EC 2.7.1.30）的活性小于健康受试者值的1%。
We describe the case of a 10-year-old boy who had been admitted on several occasions with a diagnosis of gastroenteritis. He had been severely ill, and on one occasion lost consciousness. He had a metabolic acidosis on these occasions. Examination of the urine by gas chromatography-mass spectrometry showed a large peak, identified as glycerol. The concentration of glycerol in the urine was 40-280 mmol/L and the concentration in plasma about 2 mmol/L. He was subjected to a fast of 21 h, at the end of which he expressed feelings of discomfort and nausea, began vomiting, and became somnolent. During this period the blood glucose concentration was only slightly decreased, the plasma glycerol concentration increased to 4.9 mmol/L, and the plasma lactate concentration increased to 3.8 mmol/L. During work on a bicycle ergometer for 35 min (40 W) he complained of muscle pain and became nauseated, but there was no significant increase in the concentration of plasma glycerol. The activity of glycerol kinase (EC 2.7.1.30) in leukocytes and cultured fibroblasts was less than 1% of the value for healthy subjects.