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Investigation of enzyme defects in children with lactic acidosis.

作者信息

Merinero B, Pérez-Cerda C, Ugarte M

机构信息

Department of Molecular Biology, Universidad Autónoma de Madrid, Spain.

出版信息

J Inherit Metab Dis. 1992;15(5):696-706. doi: 10.1007/BF01800009.

DOI:10.1007/BF01800009
PMID:1331606
Abstract

Screening for enzyme deficiencies was carried out in cultured skin fibroblasts and leukocytes of 19 patients with lactic acidosis and neurological problems. Pyruvate carboxylase deficiency was demonstrated in three cases. Reduced pyruvate oxidation was found in seven cultures; six showed no significant stimulation of the oxidation rate by methylene blue and in three a decreased pyruvate dehydrogenase complex activity was confirmed. Methylene blue restored a near normal oxidation rate in the seventh culture which had decreased cytochrome c oxidase activity.

摘要

相似文献

1
Investigation of enzyme defects in children with lactic acidosis.
J Inherit Metab Dis. 1992;15(5):696-706. doi: 10.1007/BF01800009.
2
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3
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6
Lactic acidosis, neurological deterioration and compromised cellular pyruvate oxidation due to a defect in the reoxidation of cytoplasmically generated NADH.乳酸酸中毒、神经功能恶化以及由于细胞质中生成的NADH再氧化缺陷导致的细胞丙酮酸氧化受损。
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7
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.
8
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Detection of pyruvate metabolism disorders by culture of skin fibroblasts with dichloroacetate.用二氯乙酸培养皮肤成纤维细胞检测丙酮酸代谢紊乱
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10
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本文引用的文献

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The genetic heterogeneity of lactic acidosis: occurrence of recognizable inborn errors of metabolism in pediatric population with lactic acidosis.乳酸性酸中毒的遗传异质性：儿科乳酸性酸中毒人群中可识别的先天性代谢缺陷的发生情况。
Pediatr Res. 1980 Aug;14(8):956-62. doi: 10.1203/00006450-198008000-00013.
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A new patient with dicarboxylic aciduria suggestive of medium-chain Acyl-CoA dehydrogenase deficiency presenting as Reye's syndrome.一名新诊断为二羧酸尿症的患者，提示中链酰基辅酶A脱氢酶缺乏，表现为瑞氏综合征。
J Inherit Metab Dis. 1984;7(2):62-4. doi: 10.1007/BF01805804.
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Lactic acidosis and mitochondrial myopathy associated with deficiency of several components of complex III of the respiratory chain.乳酸酸中毒和线粒体肌病与呼吸链复合体III的几种成分缺乏相关。
Pediatr Res. 1984 Oct;18(10):991-9. doi: 10.1203/00006450-198410000-00017.
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Single-column system for accelerated amino acid analysis of physiological fluids using five lithium buffers.
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Normal pyruvate oxidation in Friedreich ataxia and Charcot-Marie-Tooth disease fibroblasts.
Clin Chim Acta. 1985 Dec 31;153(3):233-9. doi: 10.1016/0009-8981(85)90357-2.
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Defective intramitochondrial NADH oxidation in skin fibroblasts from an infant with fatal neonatal lacticacidemia.一名患有致命性新生儿乳酸性酸中毒的婴儿皮肤成纤维细胞中线粒体内NADH氧化缺陷。
Am J Hum Genet. 1985 Sep;37(5):938-46.