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Diagnosis

Newborn screening is essential to identify phenylketonuria (PKU) so that early treatment can be implemented and avoid permanent neurological damage.1-4

 

 

 

Diagnosis of PKU

Early diagnosis and treatment are essential to avoid neurological damage in PKU patients.1,4 Since the 1960s, newborns in Australia have been screened to detect PKU using a heel prick blood test, enabling treatment to start soon after birth.3

 

Image of a happy PKU patient

References:

  1. van Spronsen FJ et al. Key European guidelines for the diagnosis and management of patients with phenylketonuria. Lancet Diabetes Endocrinol 2017;5(9):743-56.
  2. Blau N et al. Phenylketonuria. Lancet 2010;376(9750):1417-27.
  3. Berry SA et al. Newborn screening 50 years later: access issues faced by adults with PKU. Genet Med 2013;15(8):591-99.
  4. van Wegberg AMJ et al. The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis. 2017;12(1):162.