Details

Autor(en) / Beteiligte

• Dehkordi, Elham
• Sobhani, Payam
• Asadpour, Nabiolah
• Hashemipour, Mahin
• Mostofizadeh, Neda

Titel

Twin Brothers with Carnitine Membrane Transporter Deficiency: A Case Study

Ist Teil von

• Advanced biomedical research, 2018-01, Vol.7 (1), p.106-106

Ort / Verlag

India: Wolters Kluwer India Pvt. Ltd

Erscheinungsjahr

2018

Link zum Volltext

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• 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.