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.
- Dr Callum Wilson Paediatrician; Metabolic Specialist
- Dr Bryony Ryder Paediatrician, Metabolic Specialist
- Dr Emma Glamuzina Paediatrician, Metabolic Specialist
- Dr Christopher Kenedi Physician
The Metabolic Service is a national service and sees people from all around the country. In Auckland we see patients at Starship Hospital outpatient clinics. We also look after children who are inpatients at Starship and share a ward with Neurology, Neurosurgery and Endocrinology services.
Referrals are made by other specialists and sometimes general practitioners. We do accept referrals directly from families if another family member is already known to the service - e.g. for genetic counselling.
When you come to your clinic appointment, you will always meet one of our consultants, Dr Callum Wilson, Dr Bryony Ryder, Dr Emma Glamuzina or Dr Chris Kenedi. Sometimes one of our Nurse Specialists, Bec Nicol or Susan McCardle, and/or our Dietitians, Rhonda Akroyd, Rychelle Winstone or Teresa Gudex may sit in. We will take a thorough history including pregnancy, birth and early life as well as any current problems. We will often ask for blood, urine and possibly other tests to help clarify the diagnosis, depending on the reason for the referral.