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...

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: the haplotype phasing is more useful than genotyping markers independently at carrier detection and prena­tal diagnosis of diseases. the pah gene region contains several markers used in detection of pku disease. in the present study, the efficiency of bgl ii- ecor i-vntr haplotype phasing in iranian family trios was investigated. then, this informa­tion was compared with those obtai...

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...

background: phenylketonuria (pku) is an autosomal recessive disease of phenylalanine metabolism that brings deficiency of the enzyme phenylalanine hydroxylase (pah). early diagnosis is very important to prevent complications. this study was designed to describe characteristics of patients with phenylketonuria in mazandaran province in northern iran. methods: we studied 24 cases suffering from p...

Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism resulting from deficiency hydroxylase (PAH).

phenylketonuria (pku) is one of the most common metabolic inborn diseases caused by mutations in the phenylalanine hydroxylase (pah) gene. this gene is linked to a variable number of tandem repeats (vntr) region which is a polymorphic marker that facilitates the implementation of prenatal diagnosis and carrier screening. in this study, vntr with 13 repeats that has not been reported previously ...

Pigmentation during insect development is a primal adaptive requirement. In the silkworm, melanin is the primary component of larval pigments. The rate limiting substrate in melanin synthesis is tyrosine, which is converted from phenylalanine by the rate-limiting enzyme phenylalanine hydroxylase (PAH). While the role of tyrosine, derived from phenylalanine, in the synthesis of fiber proteins ha...

Analytical ultracentrifugation has been used to analyze the oligomeric structure of the isolated regulatory domain of phenylalanine hydroxylase. The protein exhibits a monomer-dimer equilibrium with a dissociation constant of ~46 μM; this value is unaffected by the removal of the 24 N-terminal residues or by phosphorylation of Ser16. In contrast, phenylalanine binding (Kd = 8 μM) stabilizes the...

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