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 ?
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.
Adult individuals on a normal diet with serum Phe concentrations of 150-720 [micro]mol/L have been classified as non-PKU mild hyperphenylalaninemia [28].
In November 2007, Merck Serono submitted a Marketing Authorization Application (MAA) to the EMEA for sapropterin dihydrochloride as an oral treatment for patients suffering from hyperphenylalaninemia (HPA) due to PKU or BH4 deficiency.
Long-term correction of hyperphenylalaninemia by AAV-mediated gene transfer leads to behavioral recovery in phenylalanine mice.
sapropterin dihydrochloride) is an oral therapy and the first treatment indicated in Europe for the treatment of hyperphenylalaninemia (HPA) due to phenylketonuria (PKU) in patients from the age of 4 years who have shown to be responsive to Kuvan, or due to tetrahydrobiopterin (BH4) deficiency.
sapropterin dihydrochloride) is an oral therapy and the first treatment indicated in Europe in conjunction with a phenylalanine-restricted diet, for the treatment of hyperphenylalaninemia (HPA) due to phenylketonuria (PKU) in patients from the age of 4 who have shown to be responsive to Kuvan, or due to tetrahydrobiopterin (BH4) deficiency.
KUVAN is the first and only FDA approved treatment to reduce blood Phe levels in patients with hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4-) responsive PKU, and is to be used in conjunction with a Phe-restricted diet.
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.
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).
BH4 deficiency is a very rare inborn error of metabolism, and is estimated to account for 1-2% of cases of hyperphenylalaninemia (HPA).
Kuvan (sapropterin dihydrochloride) Tablets are indicated in the United States to reduce blood phenylalanine (Phe) levels in patients with hyperphenylalaninemia (HPA) due to tetrahydrobiopterin- (BH4-) responsive phenylketonuria (PKU).
Disorders of phenylalanine (Phe) metabolism can lead to abnormal elevations of blood Phe levels, also called hyperphenylalaninemia (HPA).