Study on MRI changes in phenylketonuria in patients referred to mofid hospital/iran.

Author
Parveneh Karimzadeh
Farzad Ahmadabadi
Narjes Jafari
Fakhreddin Shariatmadari
Hamid Nemati
Adel Ahadi
Sanaz Karimi Dardashti
Mehrdad Mirzarahimi
Zahra Dastborhan
Javad Zare Noghabi
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Phenylketonuria is one of the most common metabolic disorders and the first known cause of mental retardation in pediatrics. As Screening for phenylketonuria (PKU) is not a routine neurometabolic screening test for neonates in Iran, many PKU cases may be diagnosed after developing the clinical symptoms. One of the findings of PKU is myelination disorders, which is seen as hypersignal regions in T2-weighted (T2W) and FLAIR sequences of brain MRI. The aim of our study was to assess MRI changes in PKU patients referred to Mofid Children's Hospital, 2010-2011.