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Paper Information

Journal:   IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN)   2013 , Volume 7 , Number 4 (SUPPL.1); Page(s) 14 To 14.
 
Paper: 

CARNITINE TRANSPORTER DEFICIENCY

 
 
Author(s):  ALAEE MOHAMMAD REZA*
 
* PEDIATRIC ENDOCRINOLOGY AND METABOLISM DEPARTMENT, MOFID CHILDREN HOSPITAL, FACULTY OF MEDICINE, SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES, TEHRAN, IRAN
 
Abstract: 

Primary carnitine deficiency or carnitine transporter deficiency is an inborn error of fatty acid transportation caused by a defect in carnitine transport across plasma membrane and impairs the entry of long-chain fatty acids into the mitochondrial matrix. Leading to a variety of symptoms such as, cardiomyopathy, muscle weakness, non ketotic hypoglycemia and hepatic involvement. Acute episodes may be induced by metabolic stress such as prolong fasting, infections or vomiting.

 
Keyword(s): CARNITINE TRANSPORTER DEFICIENCY, CARDIOMYOPATHY, NON KETOTIC HYPOGLYCEMIA
 
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