Detection of phenylketonuria.

Detection of hepatic phenylalanine 4-hydroxylase in classical phenylketonuria.

An extract from a liver biopsy of a patient with classical phenylketonuria contains phenylalanine 4-hydroxylase (EC 1.14.3.1) with a specific activity 0.27% of the normal activity of the hydroxylase. This enzyme from a patient with phenylketonuria is a structurally altered form of phenylalanine 4-hydroxylase that probably results from a mutation in the gene coding for the hydroxylase.

Phenylketonuria.

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...

Detection of phenylketonuria by the newborn screening program in Thailand.

This study evaluated the newborn screening program for phenylketonuria (PKU) in Thailand from 1996 to 2006. During the study period, 5,243,841 newborns were screened, of which 16 were confirmed to have PKU. The phenylalanine levels ranged from 20.30-30.68 mg/dl (mean 25.82 mg/dl). All the patients who were diagnosed through the newborn screening program had normal growth and development after t...

Phenylketonuria

extremal region detection guided by maxima of gradient magnitude

a problem of computer vision applications is to detect regions of interest under dif- ferent imaging conditions. the state-of-the-art maximally stable extremal regions (mser) detects affine covariant regions by applying all possible thresholds on the input image, and through three main steps including: 1) making a component tree of extremal regions’ evolution (enumeration), 2) obtaining region ...