conclusions this finding may help improve early detection, differential diagnosis, genetic counseling, and even treatment of patients with pku. introduction phenylketonuria (pku) is an autosomal recessive inborn error of phenylalanine metabolism, which is caused by mutation in phenylalanine hydroxylase (pah) gene. most of the pah mutations are missense mutations (67%), which are followed by sma...

objective: interaction between genetic and environmental factors is considered as major factors in schizophrenia (scz). it has been shown that dopaminergic and noradrenergic neurotransmission dysfunction play an essential role in the scz pathogenesis. this study aimed to find the impact of functional 19-bp insertion/deletion (ins/del) polymorphism in dopamine beta-hydroxylase (dbh) gene on scz ...

In this study the data on 115 cases of congenital adrenal hyperplasia (CAH) who were followed in the Pediatric Endocrine Clinic at Nemazee Hospital, Shiraz will be reported. Among these cases 51 were male and 64 female. The most common type of CAH in these patients was the salt-losing type of 21 -hydroxylase deficiency (85 .2%). ll-hydroxylase deficiency was present in 13.04% of patients. ...

Biogenic amines play an important role in brain metabolism and functioning, participation synaptic transmission as neurotransmitters neuromodulators (dopamine, serotonin, histamine others). Catecholamines are formed from the essential amino acid phenylalanine by hydroxylating it to tyrosine with enzyme phenylalanine-4-hydroxylase, which is subsequently converted dioxyphenylalanine (DOPA) tyrosi...

Hydroxy amino acids (HAAs) are of unique value in the chemical and pharmaceutical industry with antiviral, antifungal, antibacterial, anticancer properties. At present, hydroxylated most studied tryptophan, lysine, aspartic acid, leucine, proline, etc., some their derivatives. The hydroxylation is inextricably linked to catalysis various biological enzymes, such as tryptophan hydroxylase, L-pip...

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...

background: genetic diversity of three polymorphic markers in the phenylalanine hydroxylase (pah) gene region including pvu ii (a), pahstr and msp i were investigated. methods: unrelated individuals (n=139) from the iranian populations were genotyped using primers specific to pah gene markers including pvu ii(a), msp i and pahstr. the amplified products for pvu ii(a), msp i were digested using ...

background abnormal cholesterol homeostasis is associated with the pathogenesis of neurodegenerative disease and cognitive impairment. objectives our objective was to evaluate changes in the expression of proteins related to cognition and cholesterol homeostasis in the hippocampi of rats as well as behavioral modifications following the administration of a cholesterol-rich diet. methods in this...

ABSTRACT Background: 25-hydroxyvitamin D-1-α-hydroxylase is a key enzyme for conversion of 25-(OH)-D to 1,25-(OH)2-D and extra renally produced in various tissues. The objective the study was determine levels 1-α-hydroxylase response supplementation with vitamin D premenopausal women. Methods: This single-arm pre-post interventional study, included females (n=82) their 1-α hydroxylase were meas...