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 ?
This means that, in comparison with other countries, Yazd has a high incidence of hyperphenylalaninemia alone.
ClickPress, Mon May 19 2014] GlobalData's clinical trial report, "Hyperphenylalaninemia Global Clinical Trials Review, H1, 2014" provides data on the Hyperphenylalaninemia clinical trial scenario.
Developed by Merck Serono and BioMarin Pharmaceutical Inc, Kuvan (sapropterin dihydrochloride), is an oral therapeutic and the first treatment indicated in Europe for the treatment of hyperphenylalaninemia (HPA) due to phenylketonuria (PKU) in patients over the age of 4, or due to tetrahydrobiopterin (BH4) deficiency.
They assessed 253 4-year-olds; 149 were born to mothers with PKU who had poor metabolic control before conception and early in pregnancy, 33 were born to mothers with untreated mild hyperphenylalaninemia, and 71 were born to mothers in a control group.
Normally inherited defects in BH4 metabolism are detected at the time of newborn screening, as BH4 is also required for the activity of phenylalanine hydroxylase in the liver and a deficiency of the cofactor leads to hyperphenylalaninemia (14).
Currently, Suntory markets several products such as an antiarrythmic agent called SUNRYTHM(TM); the recombinant form of interferon gamma-1a called BIOGAMMA(TM); an atypical hyperphenylalaninemia agent called BIOPTEN(TM) and the first pharmaceutical preparation in the world of human atrial natriuetic peptide called HANP(TM).
Inactivating mutations in GCH1 have been shown to cause dopa-responsive dystonia, and an atypical hyperphenylalaninemia characterized by mental retardation, seizures, hyperthermia, and abnormalities of muscle tone (12).
Furthermore, MS/MS can distinguish with a reasonable degree of certainty a true PKU vs a hyperphenylalaninemia attributable to circumstances surrounding infants in neonatal intensive care units that may be supplemented with amino acids.
Pregnant women with even mild hyperphenylalaninemia also require strict dietary control of Phe concentrations to prevent PKU-induced fetopathy (1).
Most of these deficiencies are characterized by neonatal hyperphenylalaninemia, developmental delay, progressive neurological deterioration, hypokinesia, hypersalivation and drooling, swallowing difficulties, truncal hypotonia, increased limb tone, myoclonus, and temperature instability, with onset in the first months of life (8).
Hyperphenylalaninemia (HPA)[3] detected by neonatal screening programs is caused by a deficiency of either phenylalanine hydroxylase (PAH; EC 1.