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Myoglobinuria and carnitine palmityl transferase deficiency in father and son.

作者信息

Mongini T, Doriguzzi C, Palmucci L, Chiadò-Piat L, Maniscalco M, Schiffer D

机构信息

Paolo Peirolo Centre for Neuromuscular Disease, University of Turin, Italy.

出版信息

J Neurol. 1991 Sep;238(6):323-4. doi: 10.1007/BF00315330.

DOI:10.1007/BF00315330
PMID:1940982
Abstract

A 18-year-old man had recurrent myoglobinuria following exercise and fasting. His parents originated from the same village, which has less than 1000 inhabitants. His 53-year-old father suffered from similar episodes, whereas his mother and elder brother were symptom free. Biochemical investigations on muscle and platelets disclosed carnitine palmityl transferase (CPT) deficiency in the patient and his father. His mother and brother showed intermediate CPT values consistent with their being heterozygotes. This appears to be the first report of CPT deficiency with recurrent myoglobinuria in two generations (so-called quasidominant transmission).

摘要

相似文献

1
Myoglobinuria and carnitine palmityl transferase deficiency in father and son.
J Neurol. 1991 Sep;238(6):323-4. doi: 10.1007/BF00315330.
2
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4
[Muscular carnitine-palmityl-transferase deficiency].
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5
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Combined partial deficiency of muscle carnitine palmitoyltransferase and carnitine with autosomal dominant inheritance.伴有常染色体显性遗传的肌肉肉碱棕榈酰转移酶和肉碱联合部分缺乏症。
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[Myoglobinuria and carnitine palmitoyltransferase deficiency. Diagnostic procedure and differential diagnosis].[肌红蛋白尿与肉碱棕榈酰转移酶缺乏症。诊断程序与鉴别诊断]
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A rare presentation of Carnitine palmitoyltransferase II (CPT-2) deficiency with normal acylcarnitine profile in a 10-year-old boy with muscle weakness and bilateral hearing loss; a case report.一名10岁肌肉无力和双侧听力丧失男孩中肉碱棕榈酰转移酶II（CPT-2）缺乏症的罕见表现，酰基肉碱谱正常；病例报告
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Exercise intolerance and recurrent myoglobinuria as the only expression of Xp21 Becker type muscular dystrophy.运动不耐受和复发性肌红蛋白尿作为Xp21贝克尔型肌营养不良的唯一表现形式。
J Neurol. 1993 May;240(5):269-71. doi: 10.1007/BF00838159.
3

本文引用的文献

1
PALMITYL-COA:CARNITINE PALMITYLTRANSFERASE. PURIFICATION FROM CALF-LIVER MITOCHONDRIA AND SOME PROPERTIES OF THE ENZYME.棕榈酰辅酶A：肉碱棕榈酰转移酶。从小牛肝脏线粒体中纯化及该酶的一些性质
Biochim Biophys Acta. 1964 Jul 8;89:95-108.
2
Myoglobinuria: presentation of personal cases and review of the literature.
Ital J Neurol Sci. 1981 Aug;2(3):275-82. doi: 10.1007/BF02335408.
3
Heterogeneity of carnitine-palmitoyltransferase deficiency.肉碱-棕榈酰转移酶缺乏症的异质性。
J Neurol Sci. 1981 May;50(2):207-15. doi: 10.1016/0022-510x(81)90167-2.
Biochemical evidence for heterozygosity in muscular carnitine palmitoyltransferase deficiency.
肌肉肉碱棕榈酰转移酶缺乏症杂合性的生化证据。
Clin Investig. 1993 Dec;72(1):77-83. doi: 10.1007/BF00231124.
4
Carnitine palmityl transferase deficiency: clinical variability, carrier detection, and autosomal-recessive inheritance.肉碱棕榈酰转移酶缺乏症：临床变异性、携带者检测及常染色体隐性遗传
Neurology. 1981 Jul;31(7):883-6. doi: 10.1212/wnl.31.7.883.
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A new method for myofibrillar Ca++-ATPase reaction based on the use of metachromatic dyes: its advantages in muscle fibre typing.一种基于使用异色染料的肌原纤维Ca++-ATP酶反应新方法：其在肌纤维分型中的优势。
Histochemistry. 1983;79(3):289-94. doi: 10.1007/BF00491766.
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Muscle carnitine palmityltransferase deficiency and myoglobinuria.肌肉肉碱棕榈酰转移酶缺乏症与肌红蛋白尿症。
Science. 1973 Nov 20;182(4115):929-31. doi: 10.1126/science.182.4115.929.
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Are there two forms of carnitine palmitoyltransferase in muscle?肌肉中是否存在两种形式的肉碱棕榈酰转移酶？
Neurology. 1987 Nov;37(11):1785-90. doi: 10.1212/wnl.37.11.1785.
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Recessive carnitine palmityl transferase deficiency: biochemical studies in tissue cultures and platelets.
J Neurol. 1987 Dec;235(2):74-9. doi: 10.1007/BF00718013.
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Chronic myopathy with a partial deficiency of the carnitine palmityltransferase enzyme.伴有肉碱棕榈酰转移酶部分缺乏的慢性肌病
Arch Neurol. 1989 May;46(5):575-6. doi: 10.1001/archneur.1989.00520410111034.
10
Carnitine palmitoyltransferase II deficiency with normal carnitine palmitoyltransferase I in skeletal muscle and leucocytes.
J Neurol Sci. 1979 Jan;40(1):39-51. doi: 10.1016/0022-510x(79)90007-8.