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Thiamine-responsive lactice acidosis in a patient with deficient low-KM pyruvate carboxylase activity in liver.

作者信息

Brunette M G, Delvin E, Hazel B, Scriver C R

出版信息

Pediatrics. 1972 Nov;50(5):702-11.

PMID:4343503
Abstract
摘要

相似文献

1
Thiamine-responsive lactice acidosis in a patient with deficient low-KM pyruvate carboxylase activity in liver.
Pediatrics. 1972 Nov;50(5):702-11.
2
Thiamine-responsive lactic acidosis.硫胺素反应性乳酸性酸中毒
Nutr Rev. 1974 Mar;32(3):95. doi: 10.1111/j.1753-4887.1974.tb06288.x.
3
Hyperalaninemia with pyruvicemia due to pyruvate carboxylase deficiency of the liver.由于肝脏丙酮酸羧化酶缺乏导致的高丙氨酸血症伴丙酮酸血症。
Tohoku J Exp Med. 1969 Oct;99(2):121-8. doi: 10.1620/tjem.99.121.
4
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.
5
Subacute necrotizing encephalomyelopathy. Clinical, ultrastructural, biochemical and therapeutic studies in an infant.亚急性坏死性脑脊髓病。一名婴儿的临床、超微结构、生化及治疗研究。
Acta Paediatr Scand. 1975 Sep;64(5):755-62. doi: 10.1111/j.1651-2227.1975.tb03916.x.
6
Subacute necrotising encephalomyelopathy in three siblings.三名兄弟姐妹患亚急性坏死性脑脊髓病。
Dev Med Child Neurol. 1974 Feb;16(1):64-72. doi: 10.1111/j.1469-8749.1974.tb02713.x.
7
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.
8
Lactic acidosis due to pyruvate carboxylase deficiency.丙酮酸羧化酶缺乏所致的乳酸性酸中毒
J Inherit Metab Dis. 1981;4(2):57-8. doi: 10.1007/BF02263589.
9
Mitochondrial pyruvate metabolism in liver and kidney during acidosis.
Cell Biochem Funct. 1994 Dec;12(4):229-35. doi: 10.1002/cbf.290120402.
10
[Hyperalaninemia-pyruvicemia: chronic lactic acidosis].
Nihon Rinsho. 1973 Aug 10;31(8):2456-62.

引用本文的文献

1
Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities.编码鸟氨酸谷氨酸脱氢酶的 OGDH 中的双等位基因变异导致以全面发育迟缓、运动障碍和代谢异常为特征的神经发育障碍。
Genet Med. 2023 Feb;25(2):100332. doi: 10.1016/j.gim.2022.11.001. Epub 2022 Dec 15.
2
The plasticity of the pyruvate dehydrogenase complex confers a labile structure that is associated with its catalytic activity.丙酮酸脱氢酶复合物的可塑性赋予了其不稳定的结构，这与其催化活性相关。
PLoS One. 2020 Dec 28;15(12):e0243489. doi: 10.1371/journal.pone.0243489. eCollection 2020.
3
Hypoalaninemia and ketotic hypoglycemia: cause or consequence?
低丙氨酸血症和酮症性低血糖：是原因还是结果？
Eur J Pediatr. 1982 Feb;138(1):28-31. doi: 10.1007/BF00442324.
4
[Lactate acidosis from vitamin B1 deficiency (author's transl)].
Klin Wochenschr. 1981 Nov 16;59(22):1267-70. doi: 10.1007/BF01747759.
5
Is pyruvate carboxylase involved in the renal tubular reabsorption of bicarbonate?丙酮酸羧化酶是否参与肾小管对碳酸氢盐的重吸收？
J Inherit Metab Dis. 1980;3(4):113-6. doi: 10.1007/BF02312544.
6
Evidence for two genetic complementation groups in pyruvate carboxylase-deficient human fibroblast cell lines.丙酮酸羧化酶缺陷型人成纤维细胞系中两个遗传互补组的证据。
Biochem Genet. 1980 Jun;18(5-6):617-24. doi: 10.1007/BF00484405.
7
Pyruvate carboxylase deficiency.丙酮酸羧化酶缺乏症
J Inherit Metab Dis. 1984;7 Suppl 1:74-8. doi: 10.1007/BF03047379.
8
Neonatal pyruvate carboxylase deficiency with renal tubular acidosis and cystinuria.新生儿丙酮酸羧化酶缺乏伴肾小管酸中毒和胱氨酸尿症。
J Inherit Metab Dis. 1983;6(3):89-94. doi: 10.1007/BF01800731.
9
The biotin-dependent carboxylase deficiencies.生物素依赖性羧化酶缺乏症
Am J Hum Genet. 1982 Sep;34(5):699-716.
10
Inborn errors of metabolism. Vitamin-responsive genetic disease.先天性代谢缺陷。维生素反应性遗传病。
J Clin Pathol Suppl (R Coll Pathol). 1974;8:38-47.