Phenylketonuria

Summary Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It results from mutations in the phenylalanine hydroxylase gene. Phenotypes can vary from a very mild increase in blood phenylalanine concentrations to a severe classic phenotype with pronounced...

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Veröffentlicht in:	The Lancet (British edition) 2010-10, Vol.376 (9750), p.1417-1427
Hauptverfasser:	Blau, Nenad, Prof, van Spronsen, Francjan J, MD, Levy, Harvey L, Prof
Format:	Artikel
Sprache:	eng
Schlagworte:	Aminoacid disorders Ammonia Biological and medical sciences Biosynthesis Brain Diet Dietary restrictions Enzymes Errors of metabolism Female General aspects Humans Infant, Newborn Intellectual Disability - etiology Intellectual Disability - prevention & control Internal Medicine Mass spectrometry Medical sciences Metabolic diseases Mutation Neonatal Screening Phenylketonurias - complications Phenylketonurias - diagnosis Phenylketonurias - prevention & control Phenylketonurias - therapy Pregnancy Pregnancy Complications - diet therapy Young adults
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