Metabolic genetic disorders

What is a metabolic genetic disorder?

Genetic disorders of the metabolism are inherited disorders that interfere with cellular metabolic processes. Consequently, they can affect the function of many different organs, often with life-threatening consequences. Diagnosis can be made through careful investigations, and for many of these disorders there are effective treatments.

How do we help children who have a metabolic genetic disorder?

The SCHN provides a Genetic Metabolic Disorders Service. The Genetic Metabolic Disorders Service (GMDS) provides a consultative service as well as acting as the primary managing team for a small number of children with a chronic and complex metabolic disorder. These children have numerous comorbidities and require ongoing care including occasional urgent and acute inpatient care and intensive treatment.

The aim of the SCHN Genetic Metabolic Disorders Service is to:

  • Identify and manage patients with Inborn Errors of Metabolism (IEM)
  • Investigate children suspected of having an IEM
  • Provide a state-wide consultative service for physicians managing patients with or suspected of having an IEM

The provision of genetic metabolic disorders services has four key components:

  • Diagnosis – provision of accurate diagnosis of IEM
  • Urgent Care – provision of urgent response for children in acute decompensation
  • Consult Liaison – provision of consultative services to paediatricians managing the non-metabolic clinical care needs of these patients
  • Ongoing Care – provision of education and information to children and their families and their primary clinical carers (local paediatricians, GPs) to support their ongoing needs through to adolescence