Signs and symptoms of Phenylketonuria (PKU)
Phenylketonuria (PKU) is caused by deficiency of phenylalanine hydroxylase (PAH).1 This enzyme is required for the breakdown of phenylalanine (Phe), an essential amino acid found in all protein-containing foods.1,2 When PAH is deficient or defective, Phe accumulates to abnormally high levels in the blood and brain.2,3
Clinical manifestations of sustained high Phe levels include a variety of serious neurological and neuropsychological complications, including:3-6
- Mood disturbances
- Cognitive problems
- Executive function deficits
- 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.
- Blau N et al. Phenylketonuria. Lancet 2010;376(9750):1417-27.
- Enns GM et al. Suboptimal outcomes in patients with PKU treated early with diet alone: revisiting the evidence. Mol Genet Metab 2010;101:99-109.
- Bilder DA et al. Systematic review and meta-analysis of neuropsychiatric symptoms and executive functioning in adults with phenylketonuria. Dev Neuropsychol 2016;41(4):245-60.
- Jahja R et al. Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study. Neuropsychology 2017;31(4):437-47.
- Clacy A et al. Depression, anxiety, and stress in young adults with phenylketonuria: Associations with biochemistry. J Dev Behav Pediatr 2014;35(6):388-91.