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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.

PMID:6050895
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1923319/
Abstract
摘要

相似文献

1
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.
2
Chronic congenital lactic acidosis. A fatal case with hyperphosphatemia and hyperlipemia.
Helv Paediatr Acta. 1968 Apr;23(2):107-27.
3
CHRONIC ACIDOSIS DUE TO AN ERROR IN LACTATE AND PYRUVATE METABOLISM. REPORT OF TWO CASES.因乳酸和丙酮酸代谢错误导致的慢性酸中毒。两例报告。
Pediatrics. 1964 Sep;34:346-56.
4
A metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness.
J Pediatr. 1973 Sep;83(3):426-31. doi: 10.1016/s0022-3476(73)80266-5.
5
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。
Pediatr Res. 1976 Aug;10(8):713-20. doi: 10.1203/00006450-197608000-00002.
6
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。
Acta Paediatr Belg. 1973;27(1):21-9.
7
FAMILIAL INFANTILE LACTIC ACIDOSIS.
J Pediatr. 1965 Jun;66:1004-16. doi: 10.1016/s0022-3476(65)80085-3.
8
Lactic acidosis in three sibs due to defects in both pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase complexes.三例同胞因丙酮酸脱氢酶和α-酮戊二酸脱氢酶复合物缺陷导致乳酸酸中毒。
Pediatrics. 1976 Oct;58(4):564-72.
9
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。
Eur J Pediatr. 1976 May 4;122(2):159-68. doi: 10.1007/BF00466274.
10
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
Acta Paediatr Scand. 1976 Nov;65(6):717-24. doi: 10.1111/j.1651-2227.1976.tb18009.x.

引用本文的文献

1
[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.
4
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.
5
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.
6
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.
7
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.
8
Increased prevalence of hereditary metabolic diseases among native Indians in Manitoba and northwestern Ontario.曼尼托巴省和安大略省西北部的原住民中遗传性代谢疾病的患病率上升。
CMAJ. 1991 Jul 15;145(2):123-9.

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.