This article highlights the significance of inborn errors metabolism and focuses specifically on phenylketonuria (PKU), a well-known inheritance disorder caused by deficiency or absence phenylalanine hydroxylase (PAH). review discusses associated mutations in PAH gene their impact metabolism. A total 40 articles were analyzed between 2019 2023, covering diagnostic innovations, advancements trea...

OBJECTIVE To provide an overview of the diagnosis and management of phenylketonuria (PKU) in childhood with an emphasis on aspects relevant to family physicians providing ongoing care. SOURCES OF INFORMATION The author's experience as the clinic physician in a regional pediatric PKU clinic is supplemented with references providing evidence for key points. MAIN MESSAGE While metabolic clinic...

To determine the prevalence of 6R-Tetrahydrobiopterin (BH4) responsive phenylketonuria (PKU) in 53 cases of patients with various classification of hyperphenylalaninemia and PKU Excluding the BH4 deficient type referring to children's medical center in Iran (phenylalanine 360-2420 μmol/L), the single dose of 20 mg/kg (Kuvan®) and duration of 24 h was used. RESULTS Among the 4 different catego...

OBJECTIVE To provide information on the history of maternal phenylketonuria. METHODS A review of the literature and personal observations were conducted. RESULTS Compilation of sequential information about the development of our understanding of maternal PKU was produced. CONCLUSIONS The history of maternal PKU reflects continuous additions to our understanding of this teratogenic syndrome.

Rapid and in time diagnosis of phenylketonuria (PKU) in affected infants can help preventing the progress of mental and developmental disorders associated with the disease. Here we report the isolation of alkaliphilic Bacillus bacteria capable of producing high level of Phenylalanine dehydrogenase (PheDH) from soil. A new quantitative and rapid test for PKU diagnosis was then developed using th...

Phenylketonuria (PKU) is an inborn error of amino acid metabolism with an autosomal recessive inheritance caused in most cases by mutations in the phenylalanine hydroxylase (PAH) gene. PKU has wide allelic heterogeneity. Here we report a novel heterozygous substitution (c.1223G>T (p.Arg408Leu)) in the PAH gene in an Iranian PKU family. The patient was 19-yr-old female with diagnosis of moderate...


 CADTH recommends that Palynziq should be reimbursed by public drug plans for the treatment of patients with phenylketonuria (PKU) aged 16 years and older who have inadequate blood phenylalanine control (blood levels greater than 600 µmol/L) on existing management if certain conditions are met.
 only covered to treat PKU older.
 demonstrate maintain a response less µmol/L), is p...

The objective of this study was to determine if children with phenylketonuria (PKU) have lower fatty acid concentrations in total erythrocyte lipid due to the phenylalanine restricted diet therapy compared to healthy control subjects. Dietary intake and fatty acid concentrations in total erythrocyte lipid were measured in twenty-one subjects (</=6 years of age) with PKU and twenty-three control...

Two patients with phenylketonuria (PKU) requiring treatment were fed on low protein milks. Both had blood phenylalanine levels below 1200 micronmol/l (20mg/100 ml) until given a phenylalanine challenge. Phenylalanine content of mature breast milk may provide intakes similar to those used in treating PKU. Diagnosis of PKU is unlikely to be missed if screening is carried out on the sixth or seven...