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Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents.

作者信息

Brivet M, Slama A, Millington D S, Roe C R, Demaugre F, Legrand A, Boutron A, Poggi F, Saudubray J M

机构信息

Laboratoire de Biochimie, Hopital de Bicêtre, Le Kremlin-Bicetre, France.

出版信息

J Inherit Metab Dis. 1996;19(2):181-4. doi: 10.1007/BF01799424.

DOI:10.1007/BF01799424
PMID:8739960
Abstract
摘要

相似文献

1
Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents.
J Inherit Metab Dis. 1996;19(2):181-4. doi: 10.1007/BF01799424.
2
Intracellular in vitro probe acylcarnitine assay for identifying deficiencies of carnitine transporter and carnitine palmitoyltransferase-1.用于鉴定肉碱转运体和肉碱棕榈酰基转移酶-1 缺乏症的细胞内体外探针酰基辅酶 A 分析。
Anal Bioanal Chem. 2013 Feb;405(4):1345-51. doi: 10.1007/s00216-012-6532-3. Epub 2012 Nov 10.
3
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.
4
Carnitine palmitoyltransferase 2 and carnitine/acylcarnitine translocase are involved in the mitochondrial synthesis and export of acylcarnitines.肉碱棕榈酰基转移酶 2 和肉碱/酰基辅酶 A 转移酶参与酰基辅酶 A 的线粒体合成和输出。
FASEB J. 2013 May;27(5):2039-44. doi: 10.1096/fj.12-216689. Epub 2013 Jan 15.
5
Fatty acid beta-oxidation in peroxisomes and mitochondria: the first, unequivocal evidence for the involvement of carnitine in shuttling propionyl-CoA from peroxisomes to mitochondria.过氧化物酶体和线粒体中的脂肪酸β-氧化：肉碱参与将丙酰辅酶A从过氧化物酶体转运至线粒体的首个明确证据。
Biochem Biophys Res Commun. 1995 Aug 24;213(3):1035-41. doi: 10.1006/bbrc.1995.2232.
6
Evidence for a short-chain carnitine-acylcarnitine translocase in mitochondria specifically related to the metabolism of branched-chain amino acids.线粒体中存在一种与支链氨基酸代谢特别相关的短链肉碱-酰基肉碱转位酶的证据。
Mol Genet Metab. 2000 Jan;69(1):69-75. doi: 10.1006/mgme.1999.2950.
7
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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Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle.
Clin Chim Acta. 2000 Aug;298(1-2):55-68. doi: 10.1016/s0009-8981(00)00268-0.
9
A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency.
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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.

引用本文的文献

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Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation: Two case reports and brief literature review.伴有c.199-10 T>G和新的c.1A>G突变的肉碱-脂酰肉碱转位酶缺乏症：两例报告及文献简要综述
Medicine (Baltimore). 2017 Nov;96(45):e8549. doi: 10.1097/MD.0000000000008549.
2
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.
3
Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment.

本文引用的文献

1
Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency.严重肉碱棕榈酰转移酶II缺乏症中的复发性代谢失代偿
J Pediatr. 1993 Jun;122(6):917-9. doi: 10.1016/s0022-3476(09)90019-1.
2
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.
3
Disorders of mitochondrial long-chain fatty acid oxidation.
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
Recognition and management of fatty acid oxidation defects: a series of 107 patients.脂肪酸氧化缺陷的识别与管理：107例患者系列研究
J Inherit Metab Dis. 1999 Jun;22(4):488-502. doi: 10.1023/a:1005556207210.
5
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.
6
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.
7
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.
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.
4
Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation.通过抑制酰基肉碱蓄积预防早期心室颤动
J Clin Invest. 1989 Mar;83(3):927-36. doi: 10.1172/JCI113978.
5
Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism.串联质谱法：一种用于酰基肉碱分析的新方法，具有用于新生儿先天性代谢缺陷筛查的潜力。
J Inherit Metab Dis. 1990;13(3):321-4. doi: 10.1007/BF01799385.
6
Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies.伴有肝肌肉症状和猝死的婴儿型肉碱棕榈酰转移酶II缺乏症。肉碱棕榈酰转移酶II缺乏症的病理生理学研究方法。
J Clin Invest. 1991 Mar;87(3):859-64. doi: 10.1172/JCI115090.
7
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.