Background: Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH). The disease may present clinically with seizures, developmental delay, hyperactivity, autistic symptoms, blue eyes, rough and dry skin, albinism or blond hair and skin and a ‘'musty odor ‘' to the baby's urine and sweat.
Aim of the Work: To evaluate management of phenylketonuria in infants and children.
Program and methods: All patients diagnosed as phenylketonuria based on screening program, clinical and laboratory findings by measuring phenyl alanine level in the blood were retrospectively assessed through checking the files of patients at Assiut Genetic Counseling Centre and Al-Azhar Assiut University Hospital from 1st January 2016 to 28th February 2021, All files of patients were evaluated through full history taking, general and complete neurological examination and developmental assessment, serum phenyl alanine and tetrahydrobiopterin loading test was done in some cases. Intelligent Question (IQ), Electroencephalogram (EEG), Childhood Autistic Rating Scale (CARS), Attention Deficit Hyperactivity Disorder (ADHD) test and Brain Magnetic Resonance Imaging (MRI) were done in some cases.
Results: In our study we estimated 400 cases retrospectively with phenylketonuria, 240 of them were found to be less than 6 months old (60%) diagnosed by screening while 160 of them ages more than 6 months (40%) diagnosed with clinical suspicion plus elevated serum phenyl alanine with mean age ± SD (1.99± 1.32) years. 204 cases were males (51%) and 196 cases were females (49%). 276 cases (69%) lived in rural areas and 124 cases (31%) lived in urban areas. 230 cases (57.5%) were offsprings of consanguineous parents. 250 cases (62.5%) had similar condition in their families. 160 cases (40%) were diagnosed by clinical presentation which included blond hair and other findings as follows: blond hair and autism in 24 cases (15%), blond hair and mental retardation in 60 cases (37.5%), blond hair and hyperactivity in 34 cases (21.25%), blond hair and seizures 29 in cases (18.125%), blond hair and bad odor urine 13 cases (8.125%). 132 cases (33%) had Phenyl alanine (Phe) level more than 1200µmol/L (classical PKU), 107 cases (26.8%) had Phe level between 900&1200µmol/L (moderate PKU) and most of them 161 cases (40.3%) had Phe level between 600&900µmol/L (mild PKU). 308 cases (77%) were compliant to dietary supplement and healthcare recommendations and 92 cases (23%) were non-compliant.
Conclusion: Mild PKU was the most common form (40%) followed by the classic form (33%). Most of diagnosed cases of PKU asked for dietary supplementation and health care recommendations (77%). The development of Egyptian neonatal screening programs demonstrated how effective treatment can lead to a near normal outcome for affected individuals.