The Adult and Paediatric National Metabolic Service, while based in Auckland at Starship Children's Health, is a lifespan 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 centres, depending on the need. We look after babies diagnosed through the National Newborn Screening programme and adults in their 70's. We are a multidisciplinary team that supports patients through the journey that these complex disorders bring for them and their whānau.
People with an inherited metabolic disease or inborn error of metabolism (IMD or IEM) have a genetic disease caused by a defect in the function of a cellular proteins (e.g., an enzyme or transporter) involved in the metabolism of various chemicals or production of energy for the cells of the body.
IMDs can be complex to diagnose, can affect multiple organ systems and present at any age in a number of different ways, and have various types of treatment, from simple vitamins to complex experimental therapies. 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.