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Extremely low birthweight neonates with phenylketonuria require special dietary management.
Acta Paediatr
November 2021
Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic.
Aim: Extremely low birthweight (ELBW) neonates require a high protein intake, but this can be challenging in the very rare cases when they also have phenylketonuria (PKU). This is due to a lack of suitable parenteral nutrition or enteral formula. Our aim was to analyse tolerance to phenylalanine in these infants.
View Article and Find Full Text PDFA Case of Suspected Hyperphenylalaninemia at Newborn Screening by Tandem Mass Spectrometry during Total Parenteral Nutrition.
Metabolites
January 2020
Center for Advanced Studies and Technology (CAST), University "G. d'Annunzio" of Chieti-Pescara, 66100 Chieti, Italy.
Phenylketonuria (PKU) is a rare autosomal recessive condition affecting about 1 in 10,000 people in the Europe, with a higher rate in some countries, like Ireland and Italy. In Italy, newborn screening (NBS) by MS/MS allows the diagnostic suspicion of PKU and its variants (Hyperphenylalaninemia (HPA), Tetrahydrobiopterin (BH4) synthesis deficiency, and Tetrahydrobiopterin (BH4) recycling deficiency) through the quantification of Phenylalanine (Phe) and the Phenylalanine/Tyrosine (Phe/Tyr) ratio in dried blood Spot (DBS) samples. Here, we report a case of an HPA whose suspicion was possible with expanded NBS, even if the normal-weight newborn was in total parenteral nutrition (TPN).
View Article and Find Full Text PDFManagement of three preterm infants with phenylketonuria.
Nutrition
March 2020
Dr. von Hauner Children's Hospital, Department of Inborn Errors of Metabolism, Ludwig-Maximilians-University, Munich, Germany. Electronic address:
Providing adequate amounts of protein in preterm infants suffering from a metabolic disease that requires a reduced intake of natural protein is challenging. Phenylketonuria (PKU) is an inborn error of metabolism affecting the enzymatic conversion of phenylalanine to tyrosine. The dietary treatment of PKU aims to lower phenylalanine concentrations in the blood by implementing a low-phenylalanine diet restrictive in natural protein.
View Article and Find Full Text PDFPhenylalanine ammonia lyase (PAL): From discovery to enzyme substitution therapy for phenylketonuria.
Mol Genet Metab
August 2018
Department of Human Genetics, McGill University, Montreal, Quebec H3A 0C7, Canada. Electronic address:
Phenylketonuria (PKU) is a genetic inborn error in metabolism that impacts many people globally, with profound individual and societal consequences when left untreated. The journey of phenylalanine ammonia lyase (PAL) from plant enzyme to enzyme substitution therapy for PKU is a fascinating story that illustrates the importance of collaboration between basic scientists and industry in the drug development process. The story begins with the curiosity of plant physiologists about the origin of lignin, a polymer involved in maintaining the rigidity of plants.
View Article and Find Full Text PDFTetrahydrobiopterin treatment reduces brain L-Phe but only partially improves serotonin in hyperphenylalaninemic ENU1/2 mice.
J Inherit Metab Dis
July 2018
Department of Pediatrics, Divisions of Metabolism and of Clinical Chemistry and Biochemistry, University of Zürich, Zürich, Switzerland.
Hyperphenylalaninemia (HPA) caused by hepatic phenylalanine hydroxylase (PAH) deficiency has severe consequences on brain monoamine neurotransmitter metabolism. We have studied monoamine neurotransmitter status and the effect of tetrahydrobiopterin (BH) treatment in Pah (ENU1/2) mice, a model of partial PAH deficiency. These mice exhibit elevated blood L-phenylalanine (L-Phe) concentrations similar to that of mild hyperphenylalaninemia (HPA), but brain levels of L-Phe are still ~5-fold elevated compared to wild-type.
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