The incidence of phenylketonuria (PKU) in Finland is extremely low, probably below 1 in 100,000. We describe the mutations and haplotypes in all four presently known patients. Mutation R408W was found on four mutant chromosomes (all haplotype 2), and IVS7nt1, R261Q, and IVS2nt1 were each found on a single chromosome. No mutation was found on the remaining chromosome. These findings support a pr...

"Inborn errors of metabolism," first recognized 100 years ago by Garrod, were seen as transforming evidence for chemical and biological individuality. Phenylketonuria (PKU), a Mendelian autosomal recessive phenotype, was identified in 1934 by Asbjörn Fölling. It is a disease with impaired postnatal cognitive development resulting from a neurotoxic effect of hyperphenylalaninemia (HPA). Its meta...

OBJECTIVE This study described the prevalence and duration of mothers' breastfeeding infants with phenylketonuria (PKU) and explored factors related to duration of breastfeeding as a surrogate for breastfeeding success. SUBJECTS AND METHODS Descriptive analysis as performed from an international Internet survey of mothers (n=103) who met the inclusion criteria: (1) at least 21 years of age, (...

Phenylketonuria (PKU) is a critical disease in the disorder of amino acid metabolism, which mostly emerges children. The most common method used PKU treatment detection l-phenylalanine (PHEA) as biomarker PKU. In present work, new molecularly imprinted electrochemical electrode based on WS2 nanoflowers (NFs) N,B-doped graphene (WS2 NFs/N,B-GR) presented for PHEA assay milk samples. First all, N...

Laboratory-based testing does not allow for the sufficiently rapid return of data to enable optimal therapeutic monitoring of patients with metabolic diseases such as phenylketonuria (PKU). The typical turn-around time of several days for current laboratory-based testing is too slow to be practically useful for effective monitoring or optimizing therapy. This report describes the development of...

Bessman’s historical perspective in this issue (1) provides us with an interesting summary of one side of a controversy that occurred > 20 y ago concerning a possible role for tyrosine in the mental defect of phenylketonuria (PKU) and maternal PKU. Unfortunately, his editorial confuses the difference between early-treated and late-treated PKU. The study by Hsia et al (2) was conducted in instit...

Background: Growing evidence suggests a higher occurrence of overweight and obesity in children diagnosed with phenylketonuria (PKU), yet the exact cause is still unknown. Objectives: The objective to address prevalence PKU. Methods: In our cross-sectional study, we included 47 PKU who were receiving care at nutritional clinic National Nutrition Institute. We conducted anthropometric assessment...

The research Phenylketonuria (PKU) is an inborn error of metabolism caused by mutations in phenylalanine hydroxylase (PAH). PKU is characterized by hyperphenylalaninemia which leads to mental retardation if untreated. Restriction of L-Phe intake by using artificial dietary formulations and early diagnosis through newborn screening tests has led to remarkable success in preventing the major mani...

BACKGROUND Phenylketonuria (PKU) is characterized by phenylalanine (Phe) accumulation to toxic levels due to the low activity of phenylalanine-hydroxylase. PKU patients must follow a Phe-restricted diet, which may put them in risk of nutritional disturbances. Therefore, we aimed to characterize body composition parameters and nutritional status in Brazilian PKU patients also considering their m...

Phenylalanine hydroxylase (PAH) deficiency is caused by mutations in the PAH gene (12q22-q24) resulting in a primary deficiency of the PAH enzyme activity, intolerance to the dietary intake of phenylalanine (Phe) and production of the phenylketonuria (PKU) disease. To date there have been no reports on the molecular analysis of PKU in Iranian population. In this study, the states of the PKU dis...