Starship Paediatric Metabolic Service

Public Service, Metabolic Medicine, Paediatrics

Description

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.

Consultants

Dr Isaac Bernhardt

Paediatrician, Metabolic Specialist
Dr Emma Glamuzina

Paediatrician, Metabolic Specialist
Dr Bryony Ryder

Paediatrician, Metabolic Specialist
Dr Callum Wilson

Paediatrician; Metabolic Specialist

Referral Expectations

The Metabolic Service is a national service that sees people from all around the country. In Auckland we see patients at Starship Hospital outpatient clinic. Sometimes these clinics may be online via Zoom Telehealth. We look after children and adults as inpatients at Starship and Auckland City Hospital respectively.

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 metabolic consultants, Dr Callum Wilson, Dr Bryony Ryder or Dr Emma Glamuzina. Sometimes you will also see our nurse specialists, Bec Nicol and Jessie Vince-Gilmour or one of our dietitians, Rhonda Akroyd, Rychelle Winstone and Teresa Gudex, or Dr Tessa Chaffey, 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 metabolic diseases are complex and often difficult to understand so you will always have access to a member of our team (often Bec in the first instance) to discuss after clinic if needed.