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PKU Clinic

Phone: 9845 53452
Fax: 9845 51864
Email: ZenaJ@chw.edu.au
Location: WSGP - Clinical Nurse Consultant

The  PKU and Metabolic clinic is the outpatients based arm of the Genetic Metabolic Disorders Service. This is a multidisciplinary service that provides a consultative diagnostic service and clinical care for children with inborn errors of metabolism from all over NSW. The service also currently provides care for many adults with inborn errors of metabolism. We have direct links with the NSW Newborn Screening Programme and the NSW Biochemical Genetics Service, and coordinate an integrated clinical and laboratory approach to the diagnosis, and comprehensive management of a large array of inborn errors of metabolism including:

  • Amino acid disorders
  • Carbohydrate metabolism disorders
  • Urea cycle disorders
  • Organic acid disorders
  • Cobalamin and folate metabolism disorders
  • Fatty acid oxidation defects
  • Organelle disorders (incl. mitochondrial disorders, lysosomal storage disorders, and peroxisomal disorders)
See also: Genetic Metabolic Diseases

Related services and clinics

Last updated: Monday the 8th of January, 2007

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