Twin Brothers with Carnitine Membrane Transporter Deficiency: A Case Study

Hashemi Dehkordi, Elham and Sobhani, Payam and Asadpour, Nabiolah and Hashemipour, Mahin and Mostofizadeh, Neda (2018) Twin Brothers with Carnitine Membrane Transporter Deficiency: A Case Study. Adv Biomed Res, 7 (106).

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Abstract

Carnitine membrane transporter deficiency or primary carnitine deficiency (PCD) is an autosomal recessive disorder of fatty acid oxidation, in which the transport of carnitine into cells is impaired. Carnitine plays an important role in transporting fatty acids into the mitochondria and carnitine deficiency block oxidation of long-chain fatty acids in the mitochondria that leads to heart and hepatic disease, myopathy, nonketotic hypoglycemia, and neurological complications. PCD has a wide range of symptoms and can reveal itself as symptomatic cardiomyopathy or even asymptomatic. In this study, we reported twin brothers with PCD. One of them had symptoms of disease and cardiomyopathy and was under treatment with carnitine. Another twin was asymptomatic and was diagnosed during follow-up period of his brother.

Item Type: Article
Uncontrolled Keywords: Cardiomyopathy, carnitine deficiency, twin
Subjects: WE Musculoskeletal system
WG Cardiovascular System
Divisions: Faculty of Medicine
Depositing User: Unnamed user with email nazari@skums.ac.ir
Date Deposited: 15 Sep 2018 04:10
Last Modified: 15 Sep 2018 04:10
URI: http://eprints.skums.ac.ir/id/eprint/7142

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