phenylketonuria


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Related to phenylketonuria: maple syrup urine disease, cystic fibrosis, alkaptonuria

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 efficient therapy of phenylketonuria and BH4 deficiency is still an unmet medical need, and Merck Serono hopes to be able to provide alternative treatments for these rare diseases," said Roberto Gradnik, Executive Vice President Commercial Europe at Merck Serono.
Sapropterin (INN: sapropterin dihydrochloride, formerly Phenoptin(TM)) is an oral therapeutic for the treatment of hyperphenylalaninemia (HPA) due to phenylketonuria (PKU) or tetrahydrobiopterin (BH4) deficiency.
Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder when left untreated, can cause problems with brain development, leading to progressive mental retardation, brain damage, and seizures.
Protective effect of recombinant adeno-associated virus 2/8-mediated gene therapy from the maternal hyperphenylalaninemia in offsprings of a mouse model of phenylketonuria.
Effect of fish oil supplementation on fatty acid status, coordination, and fine motor skills in children with phenylketonuria.
PHENYLKETONURIA, also known as PKU, is an inherited condition in which the body cannot process a substance called phenylalanine - found in a lot of artificial sweeteners.
There are sections on specific diseases and disease processes, including sickle cell, phenylketonuria (PKU), diabetes, and inflammation.
Senate Bill 74 would continue a requirement for policies to cover the cost of dietary supplements for those born with phenylketonuria, or PKU, to prevent brain damage and mental retardation.
Lack of access to metabolic clinics and rigid dietary restrictions were obstacles to maintaining safe blood phenylalanine levels in women with phenylketonuria who became pregnant, study results suggest.
5/4-4 National Coalition for Phenylketonuria (PKU) and Allied Disorders
This will test pregnant mothers for three conditions, including phenylketonuria , which affects one in 12,000 babies and causes epilepsy.
And you would be guaranteed coverage of contraceptives, treatment for severe mental illness, cancer screening tests, diabetes and baby formula and specially formulated food for the treatment of phenylketonuria, a rare, inherited disease that causes mental retardation and other problems if not treated early.