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Primary carnitine deficiency and sud...

Tang, Leung Sang Nelson.

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Primary carnitine deficiency and sudden infant death: A pathologic and molecular genetic study.

紀錄類型:	書目-語言資料,印刷品 : Monograph/item
正題名/作者:	Primary carnitine deficiency and sudden infant death: A pathologic and molecular genetic study./
作者:	Tang, Leung Sang Nelson.
面頁冊數:	206 p.
附註:	Adviser: P. J. Johnson.
Contained By:	Dissertation Abstracts International63-05B.
標題:	Biology, Genetics. -
電子資源:	http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=3052112
ISBN:	0493675825

Primary carnitine deficiency and sudden infant death: A pathologic and molecular genetic study.
Tang, Leung Sang Nelson.

Primary carnitine deficiency and sudden infant death: A pathologic and molecular genetic study. - 206 p.

Adviser: P. J. Johnson.

Thesis (M.D.)--Chinese University of Hong Kong (People's Republic of China), 2002.

Primary carnitine deficiency (PCD, OMIM: 212140) is an inherited metabolic disease. Around a hundred cases have since been diagnosed worldwide. Patients with PCD may present either during infancy with symptoms of acute energy crisis, which is potentially lethal, or during childhood with dilated cardiomyopathy. Some infants with PCD who died suddenly were diagnosed as “sudden infant death syndrome”. The disease is caused by a defect in the active carnitine transporter on the plasma membrane and is inherited in an autosomal recessive mode.

ISBN: 0493675825Subjects--Topical Terms:

1017730
Biology, Genetics.

Primary carnitine deficiency and sudden infant death: A pathologic and molecular genetic study.
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245 1 0 $a Primary carnitine deficiency and sudden infant death: A pathologic and molecular genetic study.
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502 $a Thesis (M.D.)--Chinese University of Hong Kong (People's Republic of China), 2002.
520 $a Primary carnitine deficiency (PCD, OMIM: 212140) is an inherited metabolic disease. Around a hundred cases have since been diagnosed worldwide. Patients with PCD may present either during infancy with symptoms of acute energy crisis, which is potentially lethal, or during childhood with dilated cardiomyopathy. Some infants with PCD who died suddenly were diagnosed as “sudden infant death syndrome”. The disease is caused by a defect in the active carnitine transporter on the plasma membrane and is inherited in an autosomal recessive mode.
520 $a Although inherited metabolic diseases have been reported to be the cause of about 10% of sudden infant deaths, there is a paucity of information on the metabolic causes of sudden infant death in Hong Kong. My investigation began with diagnosing the first case of PCD in Hong Kong, in a Chinese family with recurrent sudden infant death. As the affected proband was deceased, investigations were carried out in the parents to determine whether they were carriers of a PCD defect. Investigations into the molecular basis of the disease in this family have led to the identification of the disease-causing gene (OCTN2). Subsequent analysis of more Chinese cases has revealed a recurrent mutation of OCTN2 and permitted assessment of the carrier frequencies of different mutations in the general population of Southern Chinese. Similarly, detailed morphological and ultrastructural studies was also revealed in this study.
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