Mahdiyeh Shahrokhi - Dept. of Genetics, Faculty of Science, ShahidChamran University, Ahvaz
Mohammad Shafiei - Dept. of Genetics, Faculty of Science, ShahidChamran University, Ahvaz, Iran
Hamid Galehdar - Dept. of Genetics, Faculty of Science, ShahidChamran University, Ahvaz, Iran
Gholamreza Shariati - Narges Medical Genetic Laboratory, Ahvaz, Iran

Mitochondrial Trifunctional Protein deficiency is an autosomal recessive disorder due to the defect in the β-oxidation cycle of long-chain fatty acids. M-TFP deficiency are classified into 2 phenotypes: the more prevalent isolated LCHAD deficiency with defects of the α-subunits encoded by the HADHA (hydroxyacyl-CoA dehydrogenase α-subunit) gene and the less common pattern of complete M-TFP deficiencywith defectbothof HADHA or HADHB (hydroxyacyl-CoA dehydrogenase ß-subunit) genes.

Mitochondrial Trifunctional Protein, HADHA