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phenylketonuria

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phenylketonuria

[¦fen·əl‚kēd·ə′nyu̇r·ē·ə]
(medicine)
A hereditary disorder of metabolism, transmitted as an autosomal recessive, in which there is a lack of the enzyme phenylalanine hydroxylase, resulting in excess amounts of phenylalanine in the blood and of excess phenylpyruvic and other acids in the urine. Abbreviated PKU. Also known as phenylpyruvic oligophrenia.
McGraw-Hill Dictionary of Scientific & Technical Terms, 6E, Copyright © 2003 by The McGraw-Hill Companies, Inc.
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References in periodicals archive
Management of phenylketonuria and hyperphenylalaninemia.
Retrospective Study of Patients with Hyperphenylalaninemia-Experience from a Tertiary Care Center in Pakistan
Mutations of the phenylalanine hydroxylase gene in Iranian Azeri Turkish patients with phenylketonuria. Genet Test Mol Biomarkers.
Spectrum of Phenylalanine Hydroxylase Gene Mutations in Hamadan and Lorestan Provinces of Iran and Their Associations with Variable Number of Tandem Repeat Alleles
Dietary interventions for phenylketonuria. Cochrane Database Syst Rev2010; 1: CD001304, doi: 10.1002/14651858.CD001304.pub2.
Quality of life and adherence to treatment in early-treated Brazilian phenylketonuria pediatric patients
Riva, "Phenylketonuria: nutritional advances and challenges," Nutrition and Metabolism, vol.
Comparison of Glycomacropeptide with Phenylalanine Free-Synthetic Amino Acids in Test Meals to PKU Patients: No Significant Differences in Biomarkers, Including Plasma Phe Levels
A new experimental therapeutic approach to phenylketonuria. Arch Neurol 1976; 33:684-86.
The Effect of Large Neutral Amino Acids on Blood Phenylalanine Levels in Patients with Classical Phenylketonuria
The PAH gene, phenylketonuria, and a paradigm shift.
A novel variant in the PAH Gene causing Phenylketonuria in an Iranian pedigree
Autism and phenylketonuria. J Autism Dev Disorders 2003; 33:201-204.
Autism spectrum disorder and phenylketonuria: Dyzygotic twins with double syndrome
PKU and BH4: Advances in Phenylketonuria and Tetrahydrobiopterin.
Access to treatment for phenylketonuria by judicial means in Rio Grande do Sul, Brazil/Acesso ao tratamento para fenilcetonuria por via judicial no Rio Grande do Sul, Brasil
Following laboratory investigations were included in the screening protocol - dicts test for reducing substances, Ferric chloride test for Phenylketonuria, Dintrophenylhydrazine test for alpha keto acids, Nitrosonaphthol test for tyrosine, Para nitroaniline test for methylmalonic aciduria, Cyanide nitroprusside test for cysteine and homocysyteine, Ammoniacal silver nitrate test for homocysteine, Thin layer chromatography for amino acids.
Prevalence of aminoacidurias in a Tertiary Care Pediatric Medical College Hospital
ADHD, learning, and academic performance in phenylketonuria. Mol Genet Metab.
Phenylketonuria and reading and writing skills/Fenilcetonuria e habilidades de leitura e escrita
| Phenylketonuria (PKU) |is a rare genetic condition that is present from birth.
WHAT IS PKU? / Phenylketonuria
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