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Mitochondropathy presenting with non-ketotic hypoglycaemia as 3-hydroxydicarboxylic aciduria.

作者信息

Mayatepek E, Wanders R J, Becker M, Bremer H J, Hoffmann G F

机构信息

Department of Pediatrics, University of Heidelberg, Germany.

出版信息

J Inherit Metab Dis. 1995;18(2):249-52. doi: 10.1007/BF00711780.

DOI:10.1007/BF00711780
PMID:7564260
Abstract
摘要

相似文献

1
Mitochondropathy presenting with non-ketotic hypoglycaemia as 3-hydroxydicarboxylic aciduria.以3-羟基二羧酸尿症形式出现的伴有非酮症低血糖的线粒体病。
J Inherit Metab Dis. 1995;18(2):249-52. doi: 10.1007/BF00711780.
2
Secondary 3-hydroxydicarboxylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.继发性3-羟基二羧酸尿症酷似长链3-羟基酰基辅酶A脱氢酶缺乏症。
J Inherit Metab Dis. 1994;17(3):283-6. doi: 10.1007/BF00711808.
3
In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase.对一名患有C6 - C10 - 二羧酸尿症患者的成纤维细胞进行的体外研究：一般酰基辅酶A脱氢酶缺陷的证据。
Clin Chim Acta. 1982 Nov 24;126(1):53-67. doi: 10.1016/0009-8981(82)90361-8.
4
Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.长链3-羟基酰基辅酶A脱氢酶缺乏症的临床与生化表现
J Inherit Metab Dis. 1995;18(2):245-8. doi: 10.1007/BF00711779.
5
Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6-C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?与周围神经病变、色素性视网膜病变及C6 - C14羟基二羧酸尿症相关的家族性低酮性低血糖症。脂肪酸氧化的一种新缺陷？
J Inherit Metab Dis. 1988;11 Suppl 2:183-5. doi: 10.1007/BF01804230.
6
3-Hydroxydicarboxylic and 3-ketodicarboxylic aciduria in three patients: evidence for a new defect in fatty acid oxidation at the level of 3-ketoacyl-CoA thiolase.三名患者出现3-羟基二羧酸和3-酮二羧酸尿症：3-酮酰基辅酶A硫解酶水平上脂肪酸氧化新缺陷的证据。
Clin Chem. 1993 May;39(5):897-901.
7
A comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts.用[9,10-3H]棕榈酸和[9,10-3H]肉豆蔻酸检测完整培养成纤维细胞中脂肪酸氧化缺陷的比较
J Inherit Metab Dis. 1990;13(1):58-68. doi: 10.1007/BF01799333.
8
Urinary 3-hydroxydicarboxylic acids in pathophysiology of metabolic disorders with dicarboxylic aciduria.伴有二羧酸尿症的代谢紊乱病理生理学中的尿3-羟基二羧酸
Metabolism. 1991 Jul;40(7):676-82. doi: 10.1016/0026-0495(91)90083-9.
9
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder.长链3-羟基酰基辅酶A脱氢酶缺乏症：一种严重的脂肪酸氧化障碍疾病。
Eur J Pediatr. 1994 Oct;153(10):745-50. doi: 10.1007/BF01954492.
10
Dicarboxylic aciduria: deficient [1-14C]octanoate oxidation and medium-chain acyl-CoA dehydrogenase in fibroblasts.二羧酸尿症：成纤维细胞中[1-14C]辛酸氧化及中链酰基辅酶A脱氢酶缺乏
Science. 1983 Jul 1;221(4605):73-5. doi: 10.1126/science.6857268.

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Murine deficiency of peroxisomal L-bifunctional protein (EHHADH) causes medium-chain 3-hydroxydicarboxylic aciduria and perturbs hepatic cholesterol homeostasis.鼠源过氧化物酶体 L-双功能蛋白（EHHADH）缺乏导致中链 3-羟二羧酸尿症，并扰乱肝脏胆固醇的体内平衡。
Cell Mol Life Sci. 2021 Jul;78(14):5631-5646. doi: 10.1007/s00018-021-03869-9. Epub 2021 Jun 10.
2
Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis.丙酮酸羧化酶缺乏症：乳酸酸中毒的一个被低估的病因。
Mol Genet Metab Rep. 2014 Nov 28;2:25-31. doi: 10.1016/j.ymgmr.2014.11.001. eCollection 2015 Mar.
3
Analysis of 3-hydroxydodecanedioic acid for studies of fatty acid metabolic disorders: preparation of stable isotope standards.

本文引用的文献

1
Increased excretion of endogenous urinary leukotriene E4 in extrahepatic cholestasis.肝外胆汁淤积时内源性尿白三烯E4排泄增加。
Clin Chim Acta. 1993 Sep 30;218(2):185-92. doi: 10.1016/0009-8981(93)90182-4.
2
Marked elevation of urinary 3-hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency.一名患有糖原贮积病的营养不良婴儿尿中3-羟基癸二酸显著升高，酷似长链L-3-羟基酰基辅酶A脱氢酶缺乏症。
J Inherit Metab Dis. 1993;16(5):851-6. doi: 10.1007/BF00714277.
3
Secondary 3-hydroxydicarboxylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
用于脂肪酸代谢紊乱研究的3-羟基十二烷二酸分析：稳定同位素标准品的制备
J Clin Lab Anal. 2002;16(2):115-20. doi: 10.1002/jcla.10033.
4
Disorders of mitochondrial fatty acyl-CoA beta-oxidation.线粒体脂肪酰辅酶Aβ氧化紊乱
J Inherit Metab Dis. 1999 Jun;22(4):442-87. doi: 10.1023/a:1005504223140.
5
Compromised fatty acid oxidation in mitochondrial disorders.线粒体疾病中脂肪酸氧化受损。
J Inherit Metab Dis. 1998 Aug;21(5):613-7. doi: 10.1023/a:1005431424744.
6
Fatty acid oxidation in fibroblasts from patients with defects in beta-oxidation and in the respiratory chain.β-氧化和呼吸链存在缺陷的患者成纤维细胞中的脂肪酸氧化
J Inherit Metab Dis. 1998 Jun;21(4):409-15. doi: 10.1023/a:1005310809714.
7
Hypoketonuric 3-hydroxydicarboxylic aciduria in five patients with glycogen storage disease.五例糖原贮积病患者的低酮尿性3-羟基二羧酸尿症
J Inherit Metab Dis. 1997 Jul;20(3):407-10. doi: 10.1023/a:1005354701187.
8
Disorders of mitochondrial long-chain fatty acid oxidation.线粒体长链脂肪酸氧化紊乱
J Inherit Metab Dis. 1995;18(4):473-90. doi: 10.1007/BF00710058.
继发性3-羟基二羧酸尿症酷似长链3-羟基酰基辅酶A脱氢酶缺乏症。
J Inherit Metab Dis. 1994;17(3):283-6. doi: 10.1007/BF00711808.
4
3-hydroxydecanedioic acid and related homologues: urinary metabolites in ketoacidosis.3-羟基癸二酸及相关同系物：酮症酸中毒时的尿代谢产物
Clin Chem. 1980 Feb;26(2):261-5.
5
3-Hydroxyoctanoic aciduria: identification of a new organic acid in the urine of a patient with non-ketotic hypoglycemia.3-羟基辛酸尿症：一名非酮症低血糖患者尿液中一种新有机酸的鉴定。
Clin Chim Acta. 1988 Jun 30;175(1):19-26. doi: 10.1016/0009-8981(88)90031-9.
6
Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis.生物样品中有机酸的定量分析：批量分离后气相色谱-质谱分析。
Clin Chem. 1989 Apr;35(4):587-95.
7
Studies on the formation of lactate and pyruvate from glucose in cultured skin fibroblasts: implications for detection of respiratory chain defects.培养的皮肤成纤维细胞中葡萄糖生成乳酸和丙酮酸的研究：对呼吸链缺陷检测的意义
Biochem Int. 1989 Sep;19(3):563-70.
8
3-Hydroxydicarboxylic aciduria--a fatty acid oxidation defect with severe prognosis.3-羟基二羧酸尿症——一种预后严重的脂肪酸氧化缺陷病。
J Pediatr. 1990 Mar;116(3):387-92. doi: 10.1016/s0022-3476(05)82826-4.
9
Urinary 3-hydroxydicarboxylic acids in pathophysiology of metabolic disorders with dicarboxylic aciduria.伴有二羧酸尿症的代谢紊乱病理生理学中的尿3-羟基二羧酸
Metabolism. 1991 Jul;40(7):676-82. doi: 10.1016/0026-0495(91)90083-9.
10
Fatty acid beta-oxidation in leukocytes from control subjects and medium-chain acyl-CoA dehydrogenase deficient patients.对照受试者和中链酰基辅酶A脱氢酶缺乏症患者白细胞中的脂肪酸β-氧化
Biochim Biophys Acta. 1992 Jan 16;1138(1):80-4. doi: 10.1016/0925-4439(92)90155-g.