Paper Information

Journal:   IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN)   2013 , Volume 7 , Number 4 (SUPPL.1); Page(s) 5 To 7.
 
Paper: 

MITOCHONDRIAL DISORDERS: CLINICAL, PATHOLOGIC AND GENETIC CLASSIFICATION

 
 
Author(s):  ASHRAFI MAHMOUD REZA, TAVASOLI ALIREZA*
 
* PEDIATRIC NEUROLOGY DEPARTMENT, CHILDREN’S MEDICAL CENTER, PEDIATRIC CENTER OF EXCELLENCE, TEHRAN UNIVERSITY OF MEDICAL SCIENCE, TEHRAN, IRAN
 
Abstract: 

Mitochondrial disorders are a wide spectrum and heterogeneous disorders that are first described in the early 1960s. It can be said that mitochondrial disorders are the most common Neurometabolic diseases of childhood. Thesedisordersnot only present with nonspecific symptoms, but also there is not a reliable biomarker specific for the screening of them. However increased plasma level of lactate or pyruvate can be considered an important marker of mitochondrial disease. As a general rule, the involvement of 3 or more organ symptoms without a unifying diagnosis should raise suspicion of mitochondrial disease.

 
Keyword(s): MITOCHONDRIA, MITOCHONDRIAL ENCEPHALOMYOPATHY, NDNA, MDNA
 
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