Familial chronic acidosis due to an error in lactate and pyruvate metabolism.
作者信息
Haworth J C, Ford J D, Younoszai M K
出版信息
Can Med Assoc J. 1967 Sep 23;97(13):773-9.
Abstract
摘要
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Familial chronic acidosis due to an error in lactate and pyruvate metabolism.由于乳酸和丙酮酸代谢错误导致的家族性慢性酸中毒。
Can Med Assoc J. 1967 Sep 23;97(13):773-9.
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Sensitivity to carbohydrate in a patient with familial intermittent lactic acidosis and pyruvate dehydrogenase deficiency.一名患有家族性间歇性乳酸酸中毒和丙酮酸脱氢酶缺乏症患者对碳水化合物的敏感性。
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Recurrent attacks of ketoacidosis with hyperlacticacidaemia, hyperpyruvicacidaemia and hyperalaninaemia.伴有高乳酸血症、高丙酮酸血症和高丙氨酸血症的酮症酸中毒反复发作。
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FAMILIAL INFANTILE LACTIC ACIDOSIS.
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Hyperalaninemia hyperpyruvicemia and lactic acidosis due to pyruvate carboxylase deficiency of the liver; treatment with thiamine and lipoic acid.由于肝脏丙酮酸羧化酶缺乏导致的高丙氨酸血症、高丙酮酸血症和乳酸酸中毒；硫胺素和硫辛酸治疗。
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Neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in two siblings.两名兄弟姐妹患丙酮酸羧化酶缺乏症的新生儿先天性乳酸酸中毒
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引用本文的文献
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[Familial leukoencephalopathy associated with congenital lactic acidosis].
Acta Neuropathol. 1971;17(2):156-68. doi: 10.1007/BF00687491.
2
Alaninuria, associated with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus in two sisters.
Arch Dis Child. 1970 Oct;45(243):682-5. doi: 10.1136/adc.45.243.682.
3
Lactic acidosis.乳酸酸中毒
Br Med J. 1970 Oct 31;4(5730):258.
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An inherited defect affecting the tricarboxylic acid cycle in a patient with congenital lactic acidosis.一名患有先天性乳酸性酸中毒的患者存在影响三羧酸循环的遗传性缺陷。
J Clin Invest. 1972 Jul;51(7):1845-51. doi: 10.1172/JCI106986.
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A defect in pyruvate decarboxylase in a child with an intermittent movement disorder.一名患有间歇性运动障碍儿童的丙酮酸脱羧酶缺陷。
J Clin Invest. 1970 Mar;49(3):423-32. doi: 10.1172/JCI106251.
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Succinyl-CoA: 3-ketoacid CoA-transferase deficiency. A cause for ketoacidosis in infancy.琥珀酰辅酶A：3-酮酸辅酶A转移酶缺乏症。婴儿期酮症酸中毒的一个病因。
J Clin Invest. 1972 Mar;51(3):493-8. doi: 10.1172/JCI106837.
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Autism and lactic acidosis.自闭症与乳酸性酸中毒
J Autism Dev Disord. 1985 Mar;15(1):1-8. doi: 10.1007/BF01837894.
本文引用的文献
1
FAMILIAL INFANTILE LACTIC ACIDOSIS.
J Pediatr. 1965 Jun;66:1004-16. doi: 10.1016/s0022-3476(65)80085-3.
2
THE METABOLISM OF ALPHA-KETO ACIDS IN VON GIERKE'S DISEASE.冯·吉尔克病中α-酮酸的代谢
Clin Chim Acta. 1964 Jun;9:587-9. doi: 10.1016/0009-8981(64)90127-5.
3
Lactate metabolism. Studies of a child with a serious congenital deviation.
J Pediatr. 1962 Aug;61:165-80. doi: 10.1016/s0022-3476(62)80251-0.
4
Lactic acidosis with necrotizing encephalopathy in two sibs.两名同胞患乳酸酸中毒伴坏死性脑病。
Arch Dis Child. 1965 Oct;40(213):492-501. doi: 10.1136/adc.40.213.492.
5
Isozymes: biological and clinical significance.同工酶：生物学及临床意义
Pediatrics. 1966 Jan;37(1):120-31.
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