The Newborn Metabolic Screening Programme started in New Zealand in the 1960s. New Zealand was one of the first countries in the world to have a national metabolic screening programme. By testing newborns blood through a heel prick, it reduces the number of babies who die or become sick or disabled due to specific metabolic disorders such as hypothyroidism and phenylketonuria (PKU).

Newborn metabolic screening began in the 1960s when scientists (notably Professor Bob Guthrie), developed blood on paper as an analytical specimen and developed a test to measure phenylalanine in infants to identify those with phenylketonuria (PKU). Professor Guthrie spent time in New Zealand with the late Professor Arthur Veale - the founder of newborn metabolic screening in New Zealand. Dr Dianne Webster now leads the service based at LabPlus at Auckland City Hospital. 

The National Screening Unit has responsibility for the funding, monitoring and strategic direction of the programme.

Newborn metabolic screening is one of the largest screening programmes in New Zealand and each year over 60,000 newborns are screened for 28 metabolic disorders. About 45 newborns are found to have one of the metabolic disorders each year. Because the disorder is picked up early, it can often be treated before the newborn becomes sick.

Metabolic conditions are rare, inherited disorders in which the pathways that produce certain proteins in a human malfunction.  These pathways are like assembly lines in a human cell. A blockage at any point along the assembly line can lead to a build-up of toxic chemicals in the cell or a lack of an important protein or enzyme in the body.  This can lead to an illness that is often irreversible – many of the chemicals that build up in a cell as a result of a metabolic condition can cause ill health, learning disabilities or death. Metabolic disorders are not easily detected without screening. Examples of metabolic disorders are phenylketonuria (PKU) and congenital hypothyroidism.

For the few who are diagnosed through the screening programme, the benefits of screening are enormous. Early treatment can improve their health and prevent severe disability and even death.

We can treat many metabolic disorders.  Treatment often takes the form of a special diet to reduce the amount of chemicals building up in the body.

The programme has an advisory group, which meets quarterly, and provides advice on the best way to run the programme.  The group is made up of people from a number of areas including parent groups, Māori, genetics, scientists, physicians and practitioners.