肝糖原累积症中的酮症
Ketosis in hepatic glycogenosis.
作者信息
Fernandes J, Pikaar N A
出版信息
Arch Dis Child. 1972 Feb;47(251):41-6. doi: 10.1136/adc.47.251.41.
Abstract
The occurrence of ketosis in 41 patients with liver glycogenosis and a control group of 22 children was investigated. Fasting ketosis was present in children with a deficiency of the debranching enzyme system and in young children with a deficiency of the phosphorylase system, but never in patients with a glucose-6-phosphatase deficiency. Oral tolerance tests on a patient deficient in debranching enzyme showed that the blood levels of glucose and ketone bodies changed in the opposite direction. It is argued that, for biochemical reasons, the occurrence of ketosis in patients with a glucose-6-phosphatase deficiency is improbable.
摘要
对41例肝糖原贮积症患者及22名儿童对照组进行了酮症发生情况的调查。脱支酶系统缺乏的儿童和磷酸化酶系统缺乏的幼儿出现空腹酮症，但葡萄糖-6-磷酸酶缺乏的患者从未出现过。对一名脱支酶缺乏患者进行口服耐受性试验表明，血糖和酮体的血液水平呈相反方向变化。有人认为，出于生化原因，葡萄糖-6-磷酸酶缺乏患者发生酮症的可能性不大。
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本文引用的文献
1
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J Clin Invest. 1961 Feb;40(2):364-74. doi: 10.1172/JCI104263.
2
Studies in liver glycogen disease. Effects of glucagon and other agents on metabolic pattern and clinical status.肝脏糖原疾病的研究。胰高血糖素及其他药物对代谢模式和临床状况的影响。
Am J Med. 1962 Jul;33:4-19. doi: 10.1016/0002-9343(62)90272-3.
3
4
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Pediatrics. 1965 Mar;35:470-7.
5
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6
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