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 ?
The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria.
Intelligence and quality of dietary treatment in phenylketonuria.
The report reviews pipeline therapeutics for Phenylketonuria (PKU) by companies and universities/research institutes based on information derived from company and industry-specific sources
Out of these 29 positive cases, 17 were generalized aminoacidurias, 1 were branched chain aminoaciduria, and two cases of methylmalonic aciduria, and one cases each of tyrosinuria and phenylketonuria.
Neurological complications and behavioral problems in patients with phenylketonuria in a Follow-up Unit.
Impact of a camp experience on phenylalanine levels, knowledge, attitudes and health beliefs relevant to nutrition management of phenylketonuria in adolescent girls.
People with phenylketonuria need to follow a strict diet that limits the amount of phenylalanine, which is found mostly in foods that contain protein.
At present, the NBS in the country includes screening of six disorders: congenital hypothyroidism, congenital adrenal hyperplasia, phenylketonuria, glucose-6-phosphate dehydrogenase deficiency, galactosemia and maple syrup urine disease.
Phenylketonuria (PKU): Milk, eggs and their products should be restricted.
Assessment of response to the learning ability reflected that 80 to 90% of the participants responded completely to the components of the topic namely: Phenylalanine metabolism--main pathway, Phenylalanine hydroxylase--chemistry and genetics, Clinical features, diagnosis & management of phenylketonuria.
The panel notes, however, that the ADI is not applicable to people who suffer from the medical condition phenylketonuria (PKU).