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 disorder, which is characterized by severe mental retardation, microcephaly and seizures. the symptoms of this disease can be prevented if detected soon after birth. therefore, blood phenylalanine (phe) measurement is essential for the early diagnosis, treatment and dietary monitoring of pku patients. the goal of this research was to introduce a r...

Objective To evaluate the relationship between circulating phenylalanine and brain function as well neuropsychiatric symptoms in adults with phenylketonuria. Methods In this prospective cross-sectional study, early-treated patients phenylketonuria older than 30 years age- sex-matched controls were included. Extensive neurologic evaluation, neuropsychological behavioral testing, sensory motor ev...

Two tests of heterozygosity for phenylketonuria, the phenylalanine/tyrosine ratio in the plasma after a fast and the response to an oral load of phenylalanine, have been compared in obligate heterozygotes for phenylketonuria and apparent normal homozygotes. The discriminatory ability of the tests is measured using both parametric and non-parametric methods, the correlation between them is deter...

Inhibition of L-type amino acid transport with non-physiological amino acids in the Pahenu2 mouse model of phenylketonuria", Master's Thesis,

We report five cases of peptic ulceration in patients with classical phenylketonuria and suggest that there may be a causal relationship between the two conditions.

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: Heel blood sampling of newborns plays an important role in the diagnosis neonatal hypothyroidism, phenylketonuria, and other inherited metabolic diseases. Embracing breast milk sucking (EBMS) can increase newborn’s sense security relieve pain. The purpose present study was to explore effect EBMS on alleviating pain heel sampling.

BACKGROUND Sapropterin dihydrochloride, a synthetic formulation of BH4, the cofactor for phenylalanine hydroxylase (PAH, EC 1.14.16.1), was initially approved in Europe only for patients ≥4 years with BH4-responsive phenylketonuria. The aim of the SPARK (Safety Paediatric efficAcy phaRmacokinetic with Kuvan®) trial was to assess the efficacy (improvement in daily phenylalanine tolerance, neurom...