Journal ArticleDOI
Large neutral amino acids in the treatment of phenylketonuria (PKU)
Reuben Matalon,Kimberlee Michals-Matalon,Gita Bhatia,Elena Grechanina,P. Novikov,J. D. McDonald,James J. Grady,Stephen K. Tyring,Flemming Güttler +8 more
TLDR
The preliminary data from this study are encouraging and a double blind placebo-controlled trial will be required to show long-term efficacy and tolerance of LNAAs in the treatment of PKU.Citations
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Journal ArticleDOI
Phenylalanine hydroxylase deficiency
TL;DR: The mainstay of treatment for hyperphenylalaninemia involves a low-protein diet and use of a phenylalanine-free medical formula and should commence as soon as possible after birth and should continue for life.
Journal ArticleDOI
Phenylalanine hydroxylase deficiency: diagnosis and management guideline.
Jerry Vockley,Hans C. Andersson,Kevin M. Antshel,Nancy Braverman,Barbara K. Burton,Dianne M. Frazier,John J. Mitchell,Wendy E. Smith,Barry H. Thompson,Susan A. Berry +9 more
TL;DR: Treatment of phenylalanine hydroxylase deficiency must be life long, with a goal of maintaining blood phenyalanine in the range of 120–360 µmol/l, and any interventions, including medications, or combination of therapies that help to achieve that goal in an individual, without other negative consequences, should be considered appropriate therapy.
Journal ArticleDOI
The complete European guidelines on phenylketonuria: diagnosis and treatment
A.M.J. van Wegberg,Anita MacDonald,K. Ahring,Amaya Belanger-Quintana,Nenad Blau,Annet M. Bosch,Alessandro P. Burlina,Jaime Campistol,François Feillet,Maria Gizewska,Stephan C. J. Huijbregts,Shauna Kearney,Vincenzo Leuzzi,François Maillot,Ania C. Muntau,M. van Rijn,Friedrich K. Trefz,John H. Walter,F. J. van Spronsen +18 more
TL;DR: Although study designs and patient numbers are sub-optimal, many statements are convincing, important and relevant and knowledge gaps are identified which require further research in order to direct better care for the future.
Journal ArticleDOI
The PAH gene, phenylketonuria, and a paradigm shift
TL;DR: The PKU story contains many messages, including: a framework on which to appreciate the complexity of PKU in which phenotype reflects both locus‐specific and genomic components; what the human PAH gene tells us about human population genetics and evolution of modern humans; and how the interest in PKU is served by a locus-specific mutation database.
Phenylketonuria: an inborn error of phenylalanine metabolism.
TL;DR: A better understanding of the biochemistry, genetics and molecular basis of PKU, as well as the need for improved treatment options, has led to the development of new therapeutic strategies.
References
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Book
The Metabolic and Molecular Bases of Inherited Disease
TL;DR: In this paper, the authors present a list of disorders of MITOCHONDRIAL FUNCTION, including the following: DISORDERS OF MIOCHONDRIC FERTILITY XIX, XVI, XIX.
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Amino acid assignment to one of three blood-brain barrier amino acid carriers
William H. Oldendorf,John Szabo +1 more
TL;DR: Affinity for a basic amino acid carrier system was demonstrated for arginine, ornithine, and lysine and a third, low-capacity independent carrier system transporting aspartic and glutamic acids was demonstrated.
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Influence of phenylalanine intake on phenylketonuria.
Bickel H,Gerrard J,Hickmans Em +2 more
Journal ArticleDOI
An influenza epicentre
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Kinetics of competitive inhibition of neutral amino acid transport across the blood-brain barrier
TL;DR: The transport of tryptophan across the blood‐brain barrier is used as a specific example of a general approach by which rates of amino acid influx into brain may be predicted from existing concentrations of amino acids in plasma.