European guidelines on diagnosis and treatment of phenylketonuria: First revision

Phenylketonuria (PKU) is an autosomal recessive inherited disorder of phenylalanine metabolism caused by deficiency of the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. Untreated, PKU results in elevated phenylalanine levels in blood and brain, which cause severe intellectual disability, epilepsy and behavioural problems. For this first revision of the European PKU Guidelines previous recommendations were re-evaluated and updated according to new research findings. Twenty-one professionals were divided across four working groups and supported by a coordinator and chair. In addition to an update of the previous 70 recommendations, 20 new topics were included, resulting in a total…

• S
  Sanofi
• AP
  Alexion Pharmaceuticals
• D
  Danone
• V
  Vitaflo
• PT
  PTC Therapeutics
• AP
  Agios Pharmaceuticals
• M
  Moderna
• Z
  ZonMw
• UM
  Universitair Medisch Centrum Groningen
• SO
  Swedish Orphan Biovitrum