PKU


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PKU

abbr.
phenylketonuria

PKU

abbreviation for
(Pathology) phenylketonuria

PKU

phenylketonuria.
ThesaurusAntonymsRelated WordsSynonymsLegend:
Noun1.PKU - a genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency
inborn error of metabolism - any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
Translations

PKU

V. phenylketonuria.
References in periodicals archive ?
NHS England recently announced the drug Kuvan, treatment of PKU, was not prioritised for NHS use in the July funding round.
Building on this success and as part of our strategy to increase our leadership in the PKU market, we anticipate the submission of an investigational new drug application (IND) and/or a clinical trial application (CTA) for BMN 307, our gene therapy product for PKU, in the second half of 2019.
FRIENDS ZOO PKU, or Phenylketonuria, is a rare inherited metabolic disorder where people can't break down protein and is a condition senior keeper Kirsty Thornton was diagnosed with as a baby following the routine heelprick screening.
The 4,400 people living with PKU understandably feel that the government is failing them.
"We are proud to have discovered an enzyme that shows promise as a novel treatment for patients with PKU and are delighted that Nestle Health Science has elected to take on its continued development," said Codexis president and chief executive officer, John Nicols.
Palynziq is a novel enzyme therapy for adult PKU patients who have uncontrolled blood phenylalanine concentrations on current treatment.
The bacteria are designed to treat a rare inherited disease called phenylketonuria, or PKU. People with the condition must avoid dietary protein in foods such as meat and cheese, because their bodies cannot break down a byproduct, an amino acid called phenylalanine.
PKU is a rare genetic disease that manifests at birth and results in a variety of cumulative toxic effects on the brain.
Palynziq is a novel enzyme therapy for adult patients with PKU with uncontrolled blood phenylalanine (Phe) concentrations despite treatment.
The patients with PKU are born with an inability to break down phenylalanine (Phe), an amino acid present in protein-containing foods and high-intensity sweeteners used in foods and beverages.
According to the data on plasma Phe concentration, prior to switching to the Phe restriction diet, PKU patients are classified as having a classical PKU, mild PKU, or mHPA with levels of 1,200 or more, 600-1,200 [micro]mol/l, and less than 600 [micro]mol/l, respectively.
The establishment of mass newborn screening programs allowed the detection of PKU in the neonatal period and the early establishment of dietary treatment, resulting in a normal cognitive development (10).