表现为非酮症高甘氨酸血症的丙酰辅酶A羧化酶缺乏症
Propionyl coenzyme A carboxylase deficiency presenting as non-ketotic hyperglycinaemia.
作者信息
Harris D J, Thompson R M, Wolf B, Yang B I
出版信息
J Med Genet. 1981 Apr;18(2):156-7. doi: 10.1136/jmg.18.2.156.
Abstract
A 4-month-old girl presented with myoclonic seizures and an electroencephalogram showing hypsarrhythmia. Hyperglycinuria and a cerebrospinal fluid to plasma glycine ratio of 0.2 suggested the diagnosis of non-ketotic hyperglycinaemia. Propionic acid and methyl citric acid were present in the urine, and propionyl coenzyme A carboxylase was deficient in leucocytes and fibroblasts. The ketotic and non-ketotic hyperglycinaemias cannot be differentiated by CSF: plasma glycine ratios.
摘要
一名4个月大的女孩出现肌阵挛性癫痫发作，脑电图显示高峰失律。高甘氨酸尿症以及脑脊液与血浆甘氨酸比值为0.2提示非酮症性高甘氨酸血症的诊断。尿液中存在丙酸和甲基柠檬酸，白细胞和成纤维细胞中丙酰辅酶A羧化酶缺乏。酮症性和非酮症性高甘氨酸血症无法通过脑脊液与血浆甘氨酸比值进行区分。
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本文引用的文献
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Propionic acidemia with severe hyperammonemia and defective glycine metabolism.丙酸血症伴严重高氨血症及甘氨酸代谢缺陷。
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