Phenylalanine hydroxylase deficiency

@article{Mitchell2011PhenylalanineHD,
  title={Phenylalanine hydroxylase deficiency},
  author={John J. Mitchell and Yannis J. Trakadis and Charles R. Scriver},
  journal={Genetics in Medicine},
  year={2011},
  volume={13},
  pages={697-707}
}
Phenylalanine hydroxylase deficiency is an autosomal recessive disorder that results in intolerance to the dietary intake of the essential amino acid phenylalanine. It occurs in approximately 1:15,000 individuals. Deficiency of this enzyme produces a spectrum of disorders including classic phenylketonuria, mild phenylketonuria, and mild hyperphenylalaninemia. Classic phenylketonuria is caused by a complete or near-complete deficiency of phenylalanine hydroxylase activity and without dietary… 
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Highly Influential Citations
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459 Citations

Phenylketonuria
TLDR
Tetrahydrobiopterin stimulates phenylalanine hydroxylase activity in about 20% of patients, and in those patients serves as a useful adjunct to the phenylketonuria-restricted diet because it increases phenylAlanine tolerance and allows some dietary freedom.
Phenylalanine hydroxylase deficiency: diagnosis and management guideline
TLDR
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.
Fourteen years of newborn screening for phenylketonuria in Vojvodina
TLDR
Phenylketonuria is a hereditary disease whose adverse effects can be avoided, if it is recognized in time, and if recommended treatment measures are adequately applied, thereby improving the quality of life of persons affected by the disease as well as the whole family, that is facilitated by the introduction and implementation of neonatal screening.
Spectrum of mutations in Lebanese patients with phenylalanine hydroxylase deficiency.
The phenylketonuria patient: A recent dietetic therapeutic approach
TLDR
Additions to treatment include new, more palatable foods, based on Glycomacropeptide that contains limited amounts of Phe, the administration of large neutral amino acids to prevent phenylalanine entry into the brain and tetrahydrobiopterin cofactor capable of increasing residual PAH activity.
Phenylketonuria Dietary Management and an Emerging Development.
Understanding of the phenylketonuria problem through history
TLDR
The Guthrie test is carried out as a mass, screening method for phenylketonuria and it is a part of mandatory national child health care program.
Genetic etiology and clinical challenges of phenylketonuria
TLDR
This review discusses the epidemiology, pathophysiology, genetic etiology, and management of phenylketonuria, which results in severe and irreversible intellectual disability, epilepsy, behavioral disorders, and clinical features such as acquired microcephaly, seizures, psychological signs, and generalized hypopigmentation of skin.
Phenylketonuria: translating research into novel therapies.
TLDR
It is hoped that continuing efforts into these studies will translate into a significant improvement in the physical outcome, as well as quality of life, for patients with PKU.
Sapropterin hydrochloride: enzyme enhancement therapy for phenylketonuria
  • R. Lachmann
  • Medicine
    Therapeutic advances in endocrinology and metabolism
  • 2011
TLDR
The potential place for sapropterin in the management of PKU and how this expensive orphan drug is being integrated into patient care in different healthcare systems are discussed.
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TLDR
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TLDR
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