Metabolic Service
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.
Consultants
- Dr Callum Wilson Paediatrician; Metabolic Specialist
- Dr Bryony Ryder Paediatrician, Metabolic Specialist
- Dr Emma Glamuzina Paediatrician, Metabolic Specialist
- Dr Isaac Bernhardt Paediatrician, Metabolic Specialist
Referral Expectations
The Adult and Paediatric National Metabolic Service sees people from all around the country. In Auckland we see patients at Starship Hospital and Auckland City Hospital outpatients and inpatients. Sometimes these clinics may be online via Zoom Telehealth.
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.
When you come to your clinic appointment, you will always meet one of our metabolic consultants, Dr Callum Wilson, Dr Emma Glamuzina, Dr Bryony Ryder, or Dr Isaac Bernhardt . Sometimes you will also see our nurse specialists, Bec Nicol or Jessie Vince-Gilmour or one of our dietitians, Rhonda Akroyd, Rychelle Winstone and Olivia Sinclair or Beata Torok, our clinical psychologist. 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.
We understand that inherited metabolic diseases (IMD) are complex and often difficult to understand so you will always have access to a member of our team (often Bec or Jessie in the first instance) to discuss after clinic if needed.