Childrens Metabolic Clinic

Children’s Metabolic Clinic

Clinic Type

Specialist Clinic

Website

http://www.schn.health.nsw.gov.au/parents-and-carers/our-services/metabolic-genetic-disorders/chw

Phone

02 9845 53452

Fax

02 9845 51864

The Genetic Metabolic Disorders Service is one of the clinical arms of the Western Sydney Genetics Program (WSGP). This is a multidisciplinary service that provides a consultative diagnostic service and clinical care for children and adolescents with inborn errors of metabolism from all over NSW.

The service provides comprehensive management for such diseases as:

Amino acid disorders (including phenylketonuria, tyrosinaemia, homocystinuria, maple syrup urine disease, urea cycle disorders and organic acid disorders) Fatty acid oxidation defects Carbohydrate metabolism disorders (including galactosaemia and glycogen storage disorders) Cobalamin and folate metabolism disorders Organellar disorders (including mitochondrial disorders, lysosomal storage disorders, and peroxisomal disorders) Rett syndrome (as part of a multidisciplinary management clinic) The service also receives referrals from interstate and internationally for consultation relating to a wide range of metabolic disorders.

Location

NSW

Address

Westmead NSW 2145 
Australia