Werbung
 Übersetzung für 'phenylketonuria' von Englisch nach Deutsch
SYNO phenylketonuria | PKU
med.
phenylketonuria <PKU>
Phenylketonurie {f} <PKU>
1 Übersetzung
Neue Wörterbuch-Abfrage: Einfach jetzt tippen!

Übersetzung für 'phenylketonuria' von Englisch nach Deutsch

phenylketonuria <PKU>
Phenylketonurie {f} <PKU>med.
Werbung
Anwendungsbeispiele Englisch
  • Enzyme substitution therapy using PAL to treat phenylketonuria (PKU), an autosomal recessive genetic disorder in humans in which mutations in the phenylalanine hydroxylase (PAH, EC 1.14.16.1) gene inactivate the enzyme is being explored.
  • a biopharmaceutical company focused on the development of CNSA-001 (sepiapterin), a clinical-stage investigational therapy for orphan metabolic diseases, including phenylketonuria (PKU) and other diseases associated with defects in the tetrahydrobiopterin (BH4) biochemical pathways diagnosed at birth.
  • Other examples are fetal alcohol syndrome, phenylketonuria, and Turner syndrome.
  • Seymour spent much of his life studying schizophrenia. He said that genetic influences may be largely responsible for psychosis, comparing it to phenylketonuria or Huntington's disease.
  • For example, most states in the USA require newborns to be screened for phenylketonuria and hypothyroidism, among other congenital disorders.

  • Patients with phenylketonuria should consult with a physician before taking Questran Light because that product contains phenylalanine.
  • Ivar Asbjørn Følling (23 August 1888 – 24 January 1973) was a Norwegian physician and biochemist. He first described the disease commonly known as Følling's disease or phenylketonuria (PKU).
  • It is a symptom of several diseases, including Lesch–Nyhan syndrome, phenylketonuria, and Huntington disease and can be a feature of kernicterus (rapidly increasing unconjugated bilirubin that cross the blood-brain-barrier in infants).
  • Therefore, a deficiency in tetrahydrobiopterin can cause a toxic buildup of L-phenylalanine, which manifests as the severe neurological issues seen in phenylketonuria.
  • Other risk factors include maternal obesity, diabetes, rubella, indomethacin tocolysis, phenylketonuria, or elderly age.

  • This makes it a safe source for individuals with phenylketonuria to obtain dietary amino acids, as phenylalanine is an aromatic amino acid.
  • The European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria (E.S.PKU) is a Europe-based non-profit organization.
  • The next few years were spent assisting in the organisation of child health services in Hertfordshire, where he lived, and in continuing his work on phenylketonuria, until he suffered a stroke in 1968 and has to drastically reduce is working habits.
  • In 1962, she and her team were awarded the John Scott Medal for their invention of a method for controlling phenylketonuria.
  • Excitotoxicity due to excessive glutamate release and impaired uptake occurs as part of the ischemic cascade and is associated with stroke, In contrast, decreased glutamate release is observed under conditions of classical phenylketonuria leading to developmental disruption of glutamate receptor expression.

  • Hyperphenylalaninemia is a medical condition characterized by mildly or strongly elevated concentrations of the amino acid phenylalanine in the blood. Phenylketonuria (PKU) can result in severe hyperphenylalaninemia.
  • Deficiency of tetrahydrobiopterin can cause toxic buildup of phenylalanine (phenylketonuria) as well as deficiencies of dopamine, norepinephrine, and epinephrine, leading to dystonia and other neurological illnesses.
Werbung
© dict.cc English-German dictionary 2024
Enthält Übersetzungen von der TU Chemnitz sowie aus Mr Honey's Business Dictionary (nur Englisch/Deutsch).
Links auf das Wörterbuch oder auch auf einzelne Übersetzungen sind immer herzlich willkommen!