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Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis.

作者信息

Brivet M, Slama A, Ogier H, Boutron A, Demaugre F, Saudubray J M, Lemonnier A

机构信息

Laboratoire de biochimie, Hopital de Bicêtre, Le Kremlin Bicêtre, France.

出版信息

J Inherit Metab Dis. 1994;17(3):271-4. doi: 10.1007/BF00711805.

DOI:10.1007/BF00711805
PMID:7807931
Abstract
摘要

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Impaired peroxisomal fatty acid oxidation in human skin fibroblasts with a mitochondrial acylcarnitine/carnitine translocase deficiency.线粒体酰基肉碱/肉碱转位酶缺乏的人皮肤成纤维细胞中过氧化物酶体脂肪酸氧化受损。
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Inborn Errors of Metabolism with Myopathy: Defects of Fatty Acid Oxidation and the Carnitine Shuttle System.伴有肌病的先天性代谢缺陷：脂肪酸氧化和肉碱穿梭系统缺陷
Pediatr Clin North Am. 2018 Apr;65(2):317-335. doi: 10.1016/j.pcl.2017.11.006. Epub 2017 Dec 28.
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Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment.

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
Complementation analysis of fatty acid oxidation disorders.脂肪酸氧化障碍的互补分析。
J Clin Invest. 1987 Jan;79(1):59-64. doi: 10.1172/JCI112808.
3
Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders.
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.
4
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.
5
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.
6
A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency.
J Inherit Metab Dis. 1995;18(2):230-2. doi: 10.1007/BF00711775.
植烷酸α-氧化及经典型雷夫叙姆病和过氧化物酶体疾病的互补分析
Hum Genet. 1989 Jan;81(2):175-81. doi: 10.1007/BF00293897.
4
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.