phenylketonuria


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phenylketonuria

(fĕn'əlkēt'əno͝or`ēə) (PKU), inherited metabolic disorder caused by a deficiency in a specific enzyme (phenylalanine hydroxylase). The absence of this enzyme, a recessive trait, prevents the body from making use of phenylalanine, one of the amino acids in most protein-rich foods, and almost always leads to mental retardation and schizoid changes when phenylalanine levels rise; convulsions also commonly occur. Early diagnosis and treatment, which includes a carefully regulated low-phenylalanine diet begun during the first few weeks of life, may prevent serious mental deficiency. Positive improvement has been seen even when therapy is started in well-established cases. In 2007 the FDA approved the use of sapropterin dihydrochloride as a treatment. The drug can boost the ability of persons with low levels of phenylalanine hydroxylase to break down phenylalanine but will not help those who lack the enzyme. Most states have made the PKU blood or urine test mandatory for all newborn infants.

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.
References in periodicals archive ?
Mutations of the phenylalanine hydroxylase gene in Iranian Azeri Turkish patients with phenylketonuria. Genet Test Mol Biomarkers.
Dietary interventions for phenylketonuria. Cochrane Database Syst Rev2010; 1: CD001304, doi: 10.1002/14651858.CD001304.pub2.
Newly detected cases of phenylketonuria are most often detected through a newborn screening program.
A new experimental therapeutic approach to phenylketonuria. Arch Neurol 1976; 33:684-86.
The PAH gene, phenylketonuria, and a paradigm shift.
Autism and phenylketonuria. J Autism Dev Disorders 2003; 33:201-204.
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.
ADHD, learning, and academic performance in phenylketonuria. Mol Genet Metab.
| Phenylketonuria (PKU) |is a rare genetic condition that is present from birth.