Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It results from mutations in the phenylalanine hydroxylase gene. Phenotypes can vary from a very mild increase in blood phenylalanine concentrations to a severe classic phenotype with pronounced hyperphenylalaninaemia, which, if untreated, results in profound and irreversible mental disability. Neo...

In this study, silver nanoparticles were chemically synthesized and deposited on glass substrates using a reducing agent of sucrose, at 50°C. Different characterizations including atomic force microscopy (AFM), field emission scanning electron microscopy (FESEM), and Raman spectroscopy were obtained to study silvery substrates. Then, the silvery substrates were used as the SERS substrates to de...

COMMITTEE ON THE HANDICAPPED CHILD I N RESPONSE to many requests from mdividuals and agencies, the following statement on the present status of treatment of phenylketonuria (PKU) has been prepared. The Committee on Fetus and Newborn has reviewed the present status of neonatal screening for inborn errors of metabolism (e.g., PKIJ and related problems) and is reporting separately. There is consid...

BACKGROUND To prevent cognitive impairment, phenylketonuria requires lifelong management of blood phenylalanine (Phe) concentration with a low-Phe diet. The diet restricts intake of Phe from natural proteins in combination with traditional amino acid medical foods (AA-MFs) or glycomacropeptide medical foods (GMP-MFs) that contain primarily intact protein and a small amount of Phe. OBJECTIVE W...

OBJECTIVE Despite early dietary treatment phenylketonuria patients have lower IQ and poorer executive functions compared to healthy controls. Cognitive problems in phenylketonuria have often been associated with phenylalanine levels. The present study examined the cognitive profile and mental health in adult phenylketonuria, in relation to phenylalanine levels and tetrahydrobiopterin treatment....

Phenylketonuria, previously a common cause of severe intellectual disability, is a metabolic disorder now promptly diagnosed and effectively treated thanks to newborn screening programs. Here, we report a male patient presenting with dyslexia and attention-deficit hyperactivity disorder, who was diagnosed with mild phenylketonuria at eight years of age. Earlier recognition and treatment before ...