Phenylketonuria

Study of phenylketonuria by paper chromatography

Phenylketonuria from Genetics to Clinics: An Iranian Prospect

Phenylketonuria (PKU) is the most common autosomal recessive disorder of amino acid metabolism. Thedisease is caused mainly by mutations in the phenylalanine hydroxylase (PAH) gene, encoding phenylalaninehydroxylase (PAH) enzyme. The PAH enzyme deficiency results in the elevation of phenylalanine inthe blood, which may cause severe irreversible mental retardation in the affect...

Molecular Diagnosis of Plasma Phenylalanine in Neonates with Phenylketonuria Disease Using Biological Sensors Based on Surface-Enhanced Raman Spectroscopy (SERS)

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...

Efect of a controlled diet program on behavioral-emotional disorders in patients with phenylketonuria

Introduction: Phenylketonuria is a disorder due to deficiency of the phenylalanine hydroxylase enzyme. Delay or untreatement would cause impacts on motor-cognitive and individual-social skills. This study aimed to investigate the effect of a controlled diet program on behavioral-emotional disorders in patients with phenylketonuria. Materials and Methods: In a quasi-experimental study, 60 patien...

Phenylketonuria: a review.

The development of a practical screening procedure for phenylketonuria and the improvement in methods of chemical analysis have led to a realization that Folling's (1934) disease of phenylketonuria is not a single entity. In this commentary, the current view on some aspects of phenylketonuria will be reviewed and the problems illustrated by experience gained in the Phenylketonuria Clinic at the...

Comparative Effectiveness Review 56: Adjuvant Treatment for Phenylketonuria (PKU)