Phenylalanine hydroxylase deficiency

Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy

“…[4][5][6] Treatment of PKU involves a low-phenylalanine diet to reduce blood Phe levels and to prevent the development of intellectual disability. 7 The low-Phe diet is highly restrictive because Phe is an amino acid found in all proteins. The diet is socially burdensome for many individuals and may hinder physical growth.…”

Successful Live Birth following Preimplantation Genetic Diagnosis for Phenylketonuria in Day 3 Embryos by Specific Mutation Analysis and Elective Single Embryo Transfer

“…Other non-traditional therapies are also being used such as large neutral amino acids (LNAA) which have shown to be beneficial in maintaining low phenylalanine levels in the body without the need of dietary control ) and other therapies that are still under experimentation such as gene therapy, enzyme replacement therapy and cell transplantation (Mitchell et al 2011;van Spronsen and Enns 2010). The licence committee were satisfied that our revised application provided clarification on the likelihood of PKU being detected in the newborn: there is a neonatal screening programme in the UK to test all newborns at 6-14 days, but it has been shown that there are regional variations in the timing of this test and the time of starting treatment, with about 8% of newborns with severe PKU still not treated by 20 days after birth (Smith et al 1991).…”

“…Individuals with homozygous mutations in the phenylalanine hydroxylase (PAH) gene lack the enzyme PAH that is essential for the breakdown of the amino acid phenylalanine. Accumulation of phenylalanine in the body can cause damage to the central nervous system and subsequently cognitive and behavioural abnormalities and mental retardation in both children and adults (Mitchell et al 2011;Enns et al 2010;Feillet et al 2010a).…”

Incidence and Prevalence of Phenylketonuria in Rostov Region

“…В настоящее время в гене РАН описано 959 различных мутаций (по состоянию на 22 марта 2016 года), которые неравномерно распределены по всему гену, формируя «горячие участки» в каталитическом домене [Mitchell J.J. et al, 2011;Donlon J. et al, 2014]. Успехи в области молекулярной генетики и проведение неонатального скрининга позволили выявить и описать атипичные формы ФКУ.…”

“…Внедрение в практическое здравоохранение большинства стран государственной программы скрининга новорожденных позволило оценить частоту ФКУ в различных популяциях, которая в среднем составляет 1:10000 [8]. Выявлены существенные колебания показателей частоты ФКУ в различных регионах: от 1:3627 в Иране до 1:120000 в Японии [10; 7].…”