Living with phenylketonuria in adulthood: the PKU ATTITUDE study [PDF]
Dietary treatment is the cornerstone of therapy for phenylketonuria (PKU), but adherence to low- phenylalanine diet progressively decreases after adolescence.
Bensi, Giulia+11 more
core +2 more sources
Effect of Experimental Phenylketonuria on the Bone of Pregnant Mothers and Their Young During Perinatal Life and After Delivered Newborn of Albino Rats [PDF]
Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine. The disease results from a deficiency in phenylalanine hydroxylase, the enzyme catalyzing the conversion of ...
Ebied, H. M. (Hala)+3 more
core
Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: Implications for tetrahydrobiopterin-responsive hyperphenylalaninemia [PDF]
The natural cofactor of phenylalanine hydroxylase (PAH), tetrahydrobiopterin (BH4), regulates the enzyme activity as well as being essential in catalysis. BH4-responsive PAH deficiency is a variant of hyperphenylalaninemia or phenylketonuria (PKU) caused
Bjorgo+31 more
core +1 more source
Synthesis of 6β-N(5)-Methyl-5,6,7,8-tetrahydro-L-biopterin
Summary 6β-N(5)-methyl-5.6J,8-tetrahydro-L-biopterin·2 HC1. a new derivate of biological interest, was synthesized from 6β-5,6,7,8-tetrahydro-L-biopteril·2 HC1 and characterized.
Bosshard Rene+2 more
doaj +1 more source
Molecular basis for nonphenylketonuria hyperphenylalaninemia
Nonphenylketonuria hyperphenylalaninemia (non-PKU HPA) is defined as phenylalanine hydroxylase (PAH) deficiency with blood phenylalanine levels below 600 mumol/liter (i.e., within the therapeutic range) on a normal dietary intake. Haplotype analysis at the PAH locus was performed in 17 Danish families with non-PKU HPA, revealing compound heterozygosity
Effrosini Economou-Petersen+3 more
openaire +3 more sources
New Developments in Screening for Inborn Errors of Metabolism [PDF]
I have briefly outlined the PKU program in the State of Virginia and tried to demonstrate how this screening experience has disclosed the heterogeneity of the disease plus the need for an individualized approach to dietary control.
Mamunes, Peter
core +1 more source
Use of sapropterin in Mexican patients with yperphenylalaninemia
Hyperphenylalaninemia is caused by deficient enzyme activity of phenylalanine hydroxylase. It was one of the first genetic disorders susceptible to treatment with a natural protein restricted diet for life.
Susana Monroy-Santoyo+2 more
doaj +1 more source
Osteopenia is an under‐investigated clinical presentation of phenylalanine hydroxylase (PAH)‐deficient phenylketonuria (PKU). While osteopenia is not fully penetrant in human PKU, the Pahenu2 mouse is universally osteopenic and ideal to study the ...
Steven F. Dobrowolski+6 more
doaj +1 more source
Psychopathological Risk Assessment in Children with Hyperphenylalaninemia
Background: Phenylketonuria (PKU) is a rare congenital disorder caused by decreased metabolism of phenylalanine determining cerebral impairments. If untreated, PKU might lead to intellectual disability, seizures and behavioral disorders.
Maria Cristina Risoleo+8 more
doaj +1 more source
7-Tetrahydrobiopterin is an uncoupled cofactor for rat hepatic phenylalanine hydroxylase [PDF]
Rat hepatic phenylalanine hydroxylase requires both a tetrahydropterin cofactor and molecular oxygen to convert phenylalanine to tyrosine. During the physiological hydroxylation, a single mol of the natural cofactor, tetrahydrobiopterin, is oxidized for ...
Armarego+30 more
core +1 more source