Three-year audit of the hyperphenylalaninaemia/phenylketonuria spectrum in Victoria.

Aims: To determine the prevalence, the types and severity of hyperphenylalaninaemia (including phenylketonuria (PKU)) in Victoria and to report on a new treatment modality of PKU.

Methods: We reviewed the medical records of all patients diagnosed with high blood phenylalanine levels by newborn screening between November 2001 and October 2004.

Results: We identified 17 newborn babies with high levels of blood phenylalanine (total samples: 190,835).