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Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia.

作者信息

Hoffmann G F, Hunneman D H, Jakobs C, Wilichowski E, Eber S W, Hanefeld F, Rating D, Reichmann H

机构信息

Department of Child Neurology, University of Göttingen, FRG.

出版信息

J Inherit Metab Dis. 1990;13(3):337-40. doi: 10.1007/BF01799389.

DOI:10.1007/BF01799389
PMID:2172644
Abstract
摘要

相似文献

1
Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia.一名患有乙基丙二酸尿症和乙基丙二酸血症的儿童出现进行性致命性全血细胞减少、精神运动发育迟缓及肌肉肉碱缺乏。
J Inherit Metab Dis. 1990;13(3):337-40. doi: 10.1007/BF01799389.
2
Sudden infant death syndrome and multiple acyl-coenzyme A dehydrogenase deficiency, ethylmalonic-adipic aciduria, or systemic carnitine deficiency.婴儿猝死综合征与多种酰基辅酶A脱氢酶缺乏症、乙基丙二酸-己二酸尿症或全身性肉碱缺乏症。
J Pediatr. 1987 Jun;110(6):881-4. doi: 10.1016/s0022-3476(87)80401-8.
3
Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency.丙酸血症和甲基丙二酸血症中丙酰肉碱的排泄：肉碱缺乏的一个原因。
Clin Chim Acta. 1984 May 16;139(1):13-21. doi: 10.1016/0009-8981(84)90187-6.
4
Muscle cytochrome c oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype.两名患有乙基丙二酸尿症及特殊临床表型的意大利患者的肌肉细胞色素c氧化酶缺乏症
J Inherit Metab Dis. 1994;17(3):301-3. doi: 10.1007/BF00711813.
5
Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome-c-oxidase in longterm frozen muscle.伴有细胞色素c氧化酶和肉碱缺乏的致死性脂质贮积性肌病。对长期冷冻肌肉中细胞色素c氧化酶的细胞化学-精细结构联合鉴定的贡献。
Virchows Arch A Pathol Anat Histopathol. 1983;399(1):11-23. doi: 10.1007/BF00666215.
6
Ethylmalonic/adipic aciduria: effects of oral medium-chain triglycerides, carnitine, and glycine on urinary excretion of organic acids, acylcarnitines, and acylglycines.乙基丙二酸/己二酸尿症：口服中链甘油三酯、肉碱和甘氨酸对有机酸、酰基肉碱和酰基甘氨酸尿排泄的影响。
Pediatr Res. 1991 Sep;30(3):216-21. doi: 10.1203/00006450-199109000-00002.
7
Ethylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiency.与进行性神经疾病和部分细胞色素c氧化酶缺乏相关的乙基丙二酸尿症。
J Inherit Metab Dis. 1993;16(3):557-9. doi: 10.1007/BF00711680.
8
Encephalopathy, petechiae, and acrocyanosis with ethylmalonic aciduria associated with muscle cytochrome c oxidase deficiency.
J Pediatr. 1994 Nov;125(5 Pt 1):843-4.
9
Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism.
Metabolism. 1998 Jul;47(7):836-9. doi: 10.1016/s0026-0495(98)90122-6.
10
[Carnitine deficiency in inborn errors of metabolism].[先天性代谢缺陷中的肉碱缺乏症]
Harefuah. 1997 Nov 16;133(10):419-23, 504.

引用本文的文献

1
Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria.抗氧化剂功能障碍：乙基丙二酸尿症神经毒性的潜在风险。
J Inherit Metab Dis. 2010 Jun;33(3):211-22. doi: 10.1007/s10545-010-9086-6. Epub 2010 May 5.
2
A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria.一例伴有孤立性乙基丙二酸尿症的短链酰基辅酶A脱氢酶缺乏症新病例。
Eur J Pediatr. 1993 Nov;152(11):922-4. doi: 10.1007/BF01957531.
3
Ethylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiency.

本文引用的文献

1
Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency.与脂质贮积性肌病和继发性肉碱缺乏相关的短链酰基辅酶A脱氢酶缺乏症。
N Engl J Med. 1984 Nov 8;311(19):1232-6. doi: 10.1056/NEJM198411083111906.
2
The diagnosis and biochemical investigation of a patient with a short chain fatty acid oxidation defect.
J Inherit Metab Dis. 1985;8 Suppl 2:135-6. doi: 10.1007/BF01811496.
3
Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness.一名患有肌肉肉碱缺乏症和严重骨骼肌无力的患者的培养成纤维细胞中短链酰基辅酶A脱氢酶的基因缺陷。
与进行性神经疾病和部分细胞色素c氧化酶缺乏相关的乙基丙二酸尿症。
J Inherit Metab Dis. 1993;16(3):557-9. doi: 10.1007/BF00711680.
J Clin Invest. 1988 Jan;81(1):171-5. doi: 10.1172/JCI113290.
4
Deletion of blood mitochondrial DNA in pancytopenia.全血细胞减少症中血液线粒体DNA的缺失。
Lancet. 1988 Sep 3;2(8610):567-8. doi: 10.1016/s0140-6736(88)92687-6.
5
Enzymes of fatty acid beta-oxidation in developing brain.发育中大脑的脂肪酸β-氧化酶
J Neurochem. 1988 Aug;51(2):339-44. doi: 10.1111/j.1471-4159.1988.tb01044.x.
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.