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A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency.

作者信息

Niezen-Koning K E, van Spronsen F J, Ijlst L, Wanders R J, Brivet M, Duran M, Reijngoud D J, Heymans H S, Smit G P

机构信息

Beatrix Children's Hospital, University of Groningen, The Netherlands.

出版信息

J Inherit Metab Dis. 1995;18(2):230-2. doi: 10.1007/BF00711775.

DOI:10.1007/BF00711775
PMID:7564255
Abstract
摘要

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1
A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency.
J Inherit Metab Dis. 1995;18(2):230-2. doi: 10.1007/BF00711775.
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Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death.线粒体肉碱-脂酰肉碱转位酶缺乏症表现为新生儿猝死。
J Pediatr. 1997 Aug;131(2):220-5. doi: 10.1016/s0022-3476(97)70157-4.
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Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: implications for diagnosis and therapy.肉碱棕榈酰转移酶缺乏症患者中肉碱棕榈酰转移酶的特征：对诊断和治疗的意义。
J Neurol Neurosurg Psychiatry. 1997 Feb;62(2):169-76. doi: 10.1136/jnnp.62.2.169.
5
Peroxisomes contribute to the acylcarnitine production when the carnitine shuttle is deficient.当肉碱穿梭系统功能不足时，过氧化物酶体有助于酰基肉碱的产生。
Biochim Biophys Acta. 2013 Sep;1831(9):1467-74. doi: 10.1016/j.bbalip.2013.06.007. Epub 2013 Jul 10.
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Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response.肉碱-脂酰肉碱转位酶缺乏症：两例具有常见剪接突变及体外苯扎贝特反应的新生儿病例
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Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase.
J Pediatr. 1995 Nov;127(5):723-8. doi: 10.1016/s0022-3476(95)70160-5.
8
Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis.通过互补分析诊断肉碱/脂酰肉碱转位酶缺乏症
J Inherit Metab Dis. 1994;17(3):271-4. doi: 10.1007/BF00711805.
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Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.伴有严重低血糖和房室传导阻滞的肉碱-酰基肉碱转位酶缺乏症。通透化成纤维细胞中的转位酶检测。
J Clin Invest. 1993 Mar;91(3):1247-52. doi: 10.1172/JCI116288.
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Carnitine-acylcarnitine translocase deficiency is a treatable disease.肉碱-脂酰肉碱转位酶缺乏症是一种可治疗的疾病。
J Inherit Metab Dis. 1999 May;22(3):271-5. doi: 10.1023/a:1005546408659.

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Octanoate is differentially metabolized in liver and muscle and fails to rescue cardiomyopathy in CPT2 deficiency.辛酸盐在肝脏和肌肉中代谢不同，并且不能挽救 CPT2 缺乏症的心肌病。
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本文引用的文献

1
Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.伴有严重低血糖和房室传导阻滞的肉碱-酰基肉碱转位酶缺乏症。通透化成纤维细胞中的转位酶检测。
J Clin Invest. 1993 Mar;91(3):1247-52. doi: 10.1172/JCI116288.
2
Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis.通过互补分析诊断肉碱/脂酰肉碱转位酶缺乏症
J Inherit Metab Dis. 1994;17(3):271-4. doi: 10.1007/BF00711805.
3
New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency.
Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature.
肉碱-脂酰肉碱转位酶缺乏症：西班牙4例病例经验及文献综述
JIMD Rep. 2015;20:11-20. doi: 10.1007/8904_2014_382. Epub 2015 Jan 23.
4
Carnitine-acylcarnitine translocase deficiency: identification of a novel molecular defect in a Bedouin patient.肉碱-脂酰肉碱转位酶缺乏症：一名贝都因患者新分子缺陷的鉴定
J Inherit Metab Dis. 2004;27(2):267-73. doi: 10.1023/B:BOLI.0000028780.01670.61.
5
Metabolic cardiomyopathies.代谢性心肌病
Int J Exp Pathol. 2000 Dec;81(6):349-72. doi: 10.1046/j.1365-2613.2000.00186.x.
6
Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment.肉碱-酰基肉碱转位酶缺乏症的中链甘油三酯负荷试验：治疗见解
J Inherit Metab Dis. 1999 Aug;22(6):733-9. doi: 10.1023/a:1005548201355.
7
Defects in activation and transport of fatty acids.脂肪酸激活和转运缺陷。
J Inherit Metab Dis. 1999 Jun;22(4):428-41. doi: 10.1023/a:1005552106301.
8
Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient.人类肉碱-酰基肉碱载体cDNA的克隆及一名患者分子缺陷的鉴定。
Am J Hum Genet. 1997 Dec;61(6):1239-45. doi: 10.1086/301628.
9
The mitochondrial carnitine carrier protein: cDNA cloning, primary structure and comparison with other mitochondrial transport proteins.线粒体肉碱载体蛋白：cDNA克隆、一级结构及与其他线粒体转运蛋白的比较
Biochem J. 1997 Feb 1;321 ( Pt 3)(Pt 3):713-9. doi: 10.1042/bj3210713.
10
Mammalian mitochondrial beta-oxidation.哺乳动物线粒体β-氧化
Biochem J. 1996 Dec 1;320 ( Pt 2)(Pt 2):345-57. doi: 10.1042/bj3200345.
线粒体脂肪酸氧化的新基因缺陷与肉碱缺乏症
Adv Pediatr. 1987;34:59-88.
4
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.
5
Fatty acid oxidation disorders: a new class of metabolic diseases.脂肪酸氧化障碍：一类新型代谢疾病。
J Pediatr. 1992 Jul;121(1):1-11. doi: 10.1016/s0022-3476(05)82532-6.
6
Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane.简短报告：线粒体内膜中肉碱-酰基肉碱转位酶缺乏
N Engl J Med. 1992 Jul 2;327(1):19-23. doi: 10.1056/NEJM199207023270104.
7
Molecular basis of mitochondrial fatty acid oxidation defects.线粒体脂肪酸氧化缺陷的分子基础。
J Lipid Res. 1992 Aug;33(8):1099-110.