en

phenylketonuria

1

Terminological databases

EKI terminibaas Esterm

ID 737150 Last modified 27.12.2018
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Domain pathologytypes of illness
  • Soomes harva esinev, mujal üsna tavaline kaasasündinud ensümaalne häire (fenüülalaniin­hüdroksülaasi vaegus), mille korral fenüülalaniini ja selle ainevahetusproduktide kogunemine organismis viib ravimatu raskekujulise oligofreeniani
  • fenüülalaniini ainevahetuse pärilik, aju kahjustav häire
  • inherited autosomal recessive genetic disorder due to mutations in the PAH gene which results in low levels of the enzyme phenylalanine hydroxylase (PAH), which in turn results in decreased metabolism of phenylalanine (an amino acid)
  • an inherited metabolic disorder caused by an enzyme deficiency resulting in accumulation of phenylalanine and its metabolites in the blood causing usually severe mental retardation and seizures unless phenylalanine is restricted from the diet beginning at birth
fenüülketonuuria
Usage examples
  • Fenüülketonuuria on pärilik haigus.
  • Fenüülketonuuriaga täiskasvanud väidavad, et fenüülalaniini normaalse taseme juures tunnevad nad end hästi, fenüülalaniini tõustes aga võivad esineda käte värisemine, koordinatsiooni ehk tasakaalu häired, mõtlemis- ja keskendumishäired.
phenylketonuria
PKU abbreviation
Usage examples
  • The primary symptom of untreated PKU, mental retardation, is the result of consuming foods that contain the amino acid phenylalanine, which is toxic to brain tissue.
phenylketonuria

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