Background: Phenylketonuria as the most common genetic metabolic disorder is the result of disruption of the phenylalanine hydroxylase gene. This study was carried out to explore the phenylalanine hydroxylase gene mutation status of Iranian phenylketonuria patients.    Methods: Blood samples were collected from 30 patients, and hot spot areas of the phenylalanine hydroxylase gene, in...

Because bifunctional enzymes are distinctive and highly conserved products of relatively infrequent gene-fusion events, they are particularly useful markers to identify clusters of organisms at different hierarchical levels of a phylogenetic tree. Within the subdivision of gram-negative bacteria known as superfamily B, there are two distinctive types of tyrosine-pathway dehydrogenases: (1) a br...

INTRODUCTION Hereditary Tyrosinemia type 1 (HT1) is a rare metabolic disease caused by a defect in the tyrosine degradation pathway. Current treatment consists of 2-(2-nitro-4-trifluoromethylbenoyl)-1,3-cyclohexanedione (NTBC) and a tyrosine and phenylalanine restricted diet. Recently, neuropsychological deficits have been seen in HT1 patients. These deficits are possibly associated with low bl...

Mixtures of skim milk and free amino acids were compared as diets for pigs which would allow manipulation of dietary amino acid levels. Piglets gained 208 g/d between 3 and 14 d of age on the skim-milk diet, but replacement of 600 g/kg of the dietary nitrogen with free amino acids reduced growth rate to 148 g/d. Supplementation of a lysine-deficient diet with lysine reduced the catabolism of [1...

The characteristics of anthocyanin and lignin are important parameters in evaluating the quality red Toona sinensis buds. Red T. buds prone to senescence during postharvest storage, which subsequently affects their sales. However, mechanism under low-temperature conditions remains unclear. In this study, were stored at 4 °C, contents as well enzyme activities PAL (phenylalanine ammonia lyase), ...

objective electroencephalogram (eeg) is an easy and non invasive evaluation method for diagnosis and early prognosis in children. our aim was to assess the association between eeg and the patients' developmental quotient (dq) level in phenylketonuria. materials & methods in this study, 94 pku patients (45 boys, 49 girls; mean age: 8.5 6.2 years) who were diagnosed through newborn screening test...

Abstract ( R ) - mandelic acid is an industrially important chemical, especially used for producing antibiotics. Its chemical synthesis often uses highly toxic cyanide to produce its racemic form, followed by kinetic resolution with 50% maximum yield. Here we report a green and sustainable biocatalytic method )-mandelic from easily available styrene, biobased L- phenylalanine, renewable feedsto...