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: 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).

Recently, BH(4)-responsive phenylalanine hydroxylase (PAH) deficiency was reported in patients with specific mutations in the PAH gene, and it was suggested that BH(4) responsiveness may be determined by the respective genotypes. We now report on three patients with PAH deficiency and the same genotype but different responses to standardized BH(4) loading. Our results suggest that BH(4) respons...

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 ...

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....

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...

Oral administration of sapropterin hydrochloride, recently approved for use by the US Food and Drug Administration and the European Commission, is a novel approach for the treatment of phenylketonuria (PKU), one of the most common inborn errors of metabolism. PKU is caused by an inherited deficiency of the enzyme phenylalanine hydroxylase (PAH), and the pathophysiology of the disorder is relate...

BACKGROUND A novel therapeutic strategy for phenylketonuria (PKU) has been initiated in Japan. Hyperphenylalaninemia (HPA) results from a phenylalanine hydroxylase (PAH) enzyme deficiency or a deficiency of its cofactor, tetrahydrobiopterin (BH4). BH4 can normalize blood phenylalanine levels in BH4 deficiency, but typically not in PKU. However, since 1999 it has been reported that many HPA pati...