First baby born with support of metabolic drug

01 October 2022

In a first for the State, South Australia has welcomed the birth of its first baby born with the support of a newly accessible metabolic drug called Kuvan.

The Central Adelaide Local Health Network (CALHN) Endocrine and Metabolic service supports patients across South Australia and the Northern Territory with inborn errors of metabolism. This includes conditions such as Phenylketonuria or PKU which is a rare birth defect which occurs in around 1 in 10,000 births.

PKU causes an amino acid called phenylalanine (Phe), which comes from protein and is toxic to the brain at high levels, to build up in the body. The condition is uncurable, but it can be treated through a low-protein diet or a combination of a low-protein diet and medication.

Women with PKU who want to conceive are advised to lower their Phe level before and during pregnancy to reduce the risk of serious birth defects and intellectual impairment in their baby. This involves maintaining an extremely strict low-protein diet where they can only consume very small amounts of protein each day.

But now, thanks to the introduction of Kuvan on the Pharmaceutical Benefits Scheme (PBS) for Maternal Phenylketonuria (MPKU), women with PKU who are responsive to Kuvan, wanting to conceive can be less restrictive with what they eat, making their pregnancy less stressful and a lot safer for their baby.

Kuvan was introduced to the PBS for MPKU in July last year and works by simulating a naturally occurring substance in the body which helps to process Phe.

As a result, women who respond to the drug can increase their usual protein intake from the beginning of their pregnancy and may not have to adjust their diet as frequently during the pregnancy.

Kuvan has also been available on the PBS for children with PKU since 2019 and is expected to be made available to all adults in the coming months.

Statement attributable to CALHN Surgical Specialties and Metabolic Unit Senior Dietitian, Emma Clover:

We are absolutely thrilled to be able to offer Kuvan to our patients so we can give them more freedom to enjoy their pregnancy.

Previously these women faced a gruelling diet where many foods had to be completely avoided, so it is wonderful to see the impact it can have on their everyday life.

Our service is now testing the responsiveness of the drug on other women with PKU who wish to conceive, so they too can experience a more enjoyable pregnancy.

Statement attributable to CALHN CEO, Professor Lesley Dwyer:

We are extremely proud of the care provided by our Endocrine and Metabolic service, which has seen the first baby in South Australia born with the support of this life-changing drug.

We now hope to see more women accessing this drug in South Australia so we can help them lead a more normal life during their pregnancy.

Our team is committed to improving quality of life for our patients and this just one way we continue to deliver innovative, world-class care to the people of South Australia.