ABSTRACT
Phenylketonuria is the most common of all amino acidopathies. It is caused by blok in the conversion of phenylalanine into tyrosine due to defect in either the enzyme phenylalanine hyproxylase [98% of subjects] or in metabolism of the cofactor tertahydrobiopterin [2% of subjects]. The present work-was conducted to study the correlation between clinical and brain MRI finding in 28 patients with PKU, 17 [6031] males and 11[39.29%] females whose age ranged from 2.5 years to 16 years. All patient of the present work were subjected to full history taking clinical examination, IQ. assessment using Stanford Binet test determination of serum PHE level, and brain MRI study Consanguinity [82.14%] and similar condition in the family [71.43%] are commonly present in presents with PKU. Development delay was found in 100% of cases, while mental retardation was found in 96.42% of cases, also HD was present in 42.85% of cases and epilepsy was represented in 17.85% of cases. All patients [100%] were presented with skin and hair hypopigmentation to a variable extent, while blue eyes were found in 7.14% of cases, however eczematous skin rash was not present at all. Neurological evaluation revealed that, 25% of cases were presented with quadriparesis, 3.57% with left intention tremors without other manifestations of cerebellar affection According to IQ, 3.57% had normal mentality, 32.14% had mild MR and 64.2% had moderate MR. The serum levels of phenylalanine revealed that all cases had high serum PHE level, it was ranged from 5.6 mg/dl to 29.7 mg/dl with mean level 18 mg/dl. A positive correlation between age of the patients and serum PHE level was commonly found in patients with PKU. Abnormal brain MRI finding were present in 71.42% of cases in the form of perivcntricular dysmyelination without cerebellar abnormalities-A significant relation between brain MRI findings dysmyelination, and the type of the clinical groups, every individual symptom and the serum PHE level was not found