Local Investigations
No specific tests performed locally.
Investigations on referral
Rachel thought likely to have classic PKU, although other possibilities need to be considered, in particular variant PKU due to primary BH 4 (tetrahydrobiopterin) anomaly.
Urgently referred to the PKU Clinic in Sydney for specialist follow up and the family were seen by:
Specialist: Margaret Sommers
Metabolic dietician: Tracey Cummings
PKU Clinic Social Worker: Peter Morley
- Blood was collected to measure her current phenylalanine level. Repeat level 1400 ยต mol/L (normal <200)
- Urine sample was collected to measure pteridines and the neurotransmitter metabolites, HVA (homovanillic acid), and 5HIAA (5 - hydroxy indolacetic acid).
- Dihydropteridine reductase (DHPR) activity measured from original newborn screen card.
- Urine tests and DHPR assay normal.