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Demyelination and disturbed metabolism of pyruvate: a case report.

作者信息

Sengers R C, Trijbels J M, Bakkeren J A, Ruitenbeek W, Janssen A J, Stadhouders A M, ter Laak H J

出版信息

Eur J Pediatr. 1983 Apr;140(2):127-30. doi: 10.1007/BF00441661.

DOI:10.1007/BF00441661
PMID:6411474
Abstract

A patient with demyelination is described. Lactate levels were elevated in serum, urine, and cerebrospinal fluid. A decreased pyruvate oxidation rate due to a pyruvate dehydrogenase complex deficiency was demonstrated in muscle and cultured fibroblasts. In muscle mitochondria no structural abnormalities were seen. The clinical course was progressive and the patient died at the age of 6 months.

摘要

相似文献

1
Demyelination and disturbed metabolism of pyruvate: a case report.
Eur J Pediatr. 1983 Apr;140(2):127-30. doi: 10.1007/BF00441661.
2
[Pyruvate-dehydrogenase deficiency. Lethal course of the disease during infancy (author's transl)].
Monatsschr Kinderheilkd (1902). 1978 Mar;126(3):140-7.
3
Pyruvate dehydrogenase deficiency restricted to brain.仅局限于脑部的丙酮酸脱氢酶缺乏症
Neurology. 1981 Apr;31(4):398-404. doi: 10.1212/wnl.31.4.398.
4
Disorders of pyruvate metabolism.丙酮酸代谢紊乱。
Neurology. 1979 Mar;29(3):280-6. doi: 10.1212/wnl.29.3.280.
5
Fatal lactic acidosis in a newborn attributable to a congenital defect of pyruvate dehydrogenase.新生儿因丙酮酸脱氢酶先天性缺陷导致的致命性乳酸性酸中毒
Pediatr Res. 1976 Jan;10(1):62-6. doi: 10.1203/00006450-197601000-00012.
6
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.
7
Ketonic diet in the management of pyruvate dehydrogenase deficiency.生酮饮食在丙酮酸脱氢酶缺乏症治疗中的应用
Pediatrics. 1976 Nov;58(5):713-21.
8
A deficiency of both subunits of pyruvate dehydrogenase which is not expressed in fibroblasts.丙酮酸脱氢酶两个亚基均缺乏，在成纤维细胞中不表达。
Pediatr Res. 1988 Jul;24(1):95-100. doi: 10.1203/00006450-198807000-00022.
9
Muscle involvement in pyruvate dehydrogenase complex (PDHC) deficiency.丙酮酸脱氢酶复合体（PDHC）缺乏症中的肌肉受累情况。
Brain Dev. 1987;9(1):9-15. doi: 10.1016/s0387-7604(87)80003-7.
10
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.

引用本文的文献

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2
Abnormal kinetic behavior of cytochrome oxidase in a case of Leigh disease.一例 Leigh 病患者细胞色素氧化酶的异常动力学行为
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Mitochondrial encephalomyopathy--two years follow-up by MRI.线粒体脑肌病——MRI两年随访

本文引用的文献

1
Estimation of energy metabolism in human skeletal muscle homogenate as a diagnostic aid.人体骨骼肌匀浆能量代谢的评估作为一种诊断辅助手段。
J Inherit Metab Dis. 1981;4(2):91-2. doi: 10.1007/BF02263606.
2
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.
3
Sensitivity to carbohydrate in a patient with familial intermittent lactic acidosis and pyruvate dehydrogenase deficiency.
Pediatr Radiol. 1991;21(3):231-3. doi: 10.1007/BF02011058.
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.
4
Fatal lactic acidosis in a newborn attributable to a congenital defect of pyruvate dehydrogenase.新生儿因丙酮酸脱氢酶先天性缺陷导致的致命性乳酸性酸中毒
Pediatr Res. 1976 Jan;10(1):62-6. doi: 10.1203/00006450-197601000-00012.
5
Pyruvate oxidation in rat and human skeletal muscle mitochondria.
Biochem Med. 1978 Dec;20(3):395-403. doi: 10.1016/0006-2944(78)90089-3.
6
Determination of pyruvate oxidation rate and citric acid cycle activity in intact human leukocytes and fibroblasts.完整人类白细胞和成纤维细胞中丙酮酸氧化速率及柠檬酸循环活性的测定
Clin Chem. 1978 Feb;24(2):200-3.
7
Deficiency of dihydrolipoyl dehydrogenase (a component of the pyruvate and alpha-ketoglutarate dehydrogenase complexes): a cause of congenital chronic lactic acidosis in infancy.二氢硫辛酰胺脱氢酶（丙酮酸和α-酮戊二酸脱氢酶复合体的一个组分）缺乏：婴儿期先天性慢性乳酸性酸中毒的一个病因。
Pediatr Res. 1977 Dec;11(12):1198-202. doi: 10.1203/00006450-197712000-00006.
8
Dysmyelination revisited.再谈髓鞘形成异常
Arch Neurol. 1978 Jul;35(7):401-8. doi: 10.1001/archneur.1978.00500310003001.
9
Low activities of the pyruvate and oxoglutarate dehydrogenase complexes in five patients with Friedreich's ataxia.五例弗里德赖希共济失调患者丙酮酸和酮戊二酸脱氢酶复合体活性降低。
N Engl J Med. 1976 Jul 8;295(2):62-7. doi: 10.1056/NEJM197607082950202.
10
Pyruvate carboxylase and phosphoenolpyruvate carboxykinase activity in leukocytes and fibroblasts from a patient with pyruvate carboxylase deficiency.丙酮酸羧化酶缺乏症患者白细胞和成纤维细胞中丙酮酸羧化酶和磷酸烯醇式丙酮酸羧激酶活性
Pediatr Res. 1979 Jan;13(1):38-43. doi: 10.1203/00006450-197901000-00009.