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表现为家族性致死性心肌病的肌肉肉碱缺乏症

Muscle carnitine deficiency presenting as familial fatal cardiomyopathy.

作者信息

Colin A A, Jaffe M, Shapira Y, Ne'eman Z, Gutman A, Korman S

机构信息

Department of Paediatrics, Haifa City Medical Centre (Rothschild), Israel.

出版信息

Arch Dis Child. 1987 Nov;62(11):1170-2. doi: 10.1136/adc.62.11.1170.

DOI:10.1136/adc.62.11.1170
PMID:3688923
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1778534/
Abstract

Three siblings presented with fatal cardiomyopathy confirmed by electron microscopy, and normal serum but low muscle carnitine concentrations. A fourth had similar signs but remained asymptomatic. He was treated with carnitine orally which increased the concentration in muscle, though it remained below normal. Electron microscopic features were unchanged.

摘要

三名兄弟姐妹出现致命性心肌病，经电子显微镜检查确诊，血清正常但肌肉肉碱浓度低。第四名患者有类似症状但无症状。他接受了口服肉碱治疗，这增加了肌肉中的肉碱浓度，尽管仍低于正常水平。电子显微镜特征未改变。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c486/1778534/1a570a32e68d/archdisch00692-0086-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c486/1778534/e40b9acfc14a/archdisch00692-0086-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c486/1778534/1a570a32e68d/archdisch00692-0086-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c486/1778534/e40b9acfc14a/archdisch00692-0086-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c486/1778534/1a570a32e68d/archdisch00692-0086-b.jpg

相似文献

1
Muscle carnitine deficiency presenting as familial fatal cardiomyopathy.表现为家族性致死性心肌病的肌肉肉碱缺乏症
Arch Dis Child. 1987 Nov;62(11):1170-2. doi: 10.1136/adc.62.11.1170.
2
Muscle carnitine deficiency and fatal cardiomyopathy.肌肉肉碱缺乏与致死性心肌病。
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3
[Carnitine deficiency: a treatable cause of cardiomyopathy in children (author's transl)].肉碱缺乏症：儿童心肌病的一个可治疗病因（作者译）
Klin Wochenschr. 1982 Apr 15;60(8):393-400. doi: 10.1007/BF01735930.
4
[Familial cardiomyopathy caused by carnitine deficiency].
Arch Mal Coeur Vaiss. 1986 Oct;79(11):1650-4.
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Carnitine deficiency presenting as familial cardiomyopathy: a treatable defect in carnitine transport.表现为家族性心肌病的肉碱缺乏症：一种可治疗的肉碱转运缺陷。
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[Carnitine deficiency: a treatable cardiomyopathy].[肉碱缺乏症：一种可治疗的心肌病]
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[Congestive cardiomyopathy in infancy: pathogenetic role of carnitine and selenium deficiency (author's transl)].婴儿期充血性心肌病：肉碱和硒缺乏的发病机制作用（作者译）
Pediatr Med Chir. 1981 Nov-Dec;3(6):473-6.

引用本文的文献

1
Serum carnitine levels in patients with homozygous beta thalassemia: a possible new role for carnitine?
Eur J Pediatr. 2005 Mar;164(3):131-4. doi: 10.1007/s00431-004-1590-y. Epub 2004 Nov 30.

本文引用的文献

1
Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome.系统性肉碱缺乏症——一种可治疗的遗传性脂质贮积病，表现为瑞氏综合征。
N Engl J Med. 1980 Dec 11;303(24):1389-94. doi: 10.1056/NEJM198012113032403.
2
Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: a treatable cardiomyopathy.表现为家族性心内膜弹力纤维增生症的系统性肉碱缺乏症：一种可治疗的心肌病。
N Engl J Med. 1981 Aug 13;305(7):385-90. doi: 10.1056/NEJM198108133050707.
3
Carnitine deficiency presenting as familial cardiomyopathy: a treatable defect in carnitine transport.
表现为家族性心肌病的肉碱缺乏症：一种可治疗的肉碱转运缺陷。
J Pediatr. 1982 Nov;101(5):700-5. doi: 10.1016/s0022-3476(82)80294-1.
4
Nearly fatal muscle carnitine deficiency with full recovery after replacement therapy.近乎致命的肌肉肉碱缺乏症经替代疗法后完全康复。
Neurology. 1983 Dec;33(12):1629-31. doi: 10.1212/wnl.33.12.1629.
5
Carnitine metabolism and deficiency syndromes.肉碱代谢与缺乏综合征
Mayo Clin Proc. 1983 Aug;58(8):533-40.
6
Carnitine deficiency of human skeletal muscle with associated lipid storage myopathy: a new syndrome.伴有脂质贮积性肌病的人类骨骼肌肉碱缺乏症：一种新综合征。
Science. 1973 Mar 2;179(4076):899-902. doi: 10.1126/science.179.4076.899.