Starship Paediatric Metabolic Service
The Metabolic Service, while based in Auckland at Starship Children's Health, is a National Metabolic Service that sees children and adults from all around the country. We are on call for the whole country and do at least annual clinics in almost all DHBs, depending on the need.
People with a metabolic disease have what we call an 'inborn error of metabolism' or IEM - a genetic disease caused by a defect in the function of a cellular protein (e.g. an enzyme or transporter) involved in the metabolism of various chemicals in the body.
Metabolic diseases can be complex to diagnose, can affect multiple organ systems and present at any age in a number of different ways. Many are treatable. In some, early diagnosis even before a baby is born or symptoms begin, can lead to more effective treatment. In others, the aim of diagnosis is to provide information about what to expect for the future, and the risk of disease recurrence in future pregnancies.