MDDA worked hand in hand with Anne-Marie in developing this valuable guide. 

The RMH has developed a guide for pre-conceiving and expectant mothers with Phenylketonuria (PKU), a rare genetic disorder that prevents the normal breakdown of a protein found in most foods.

‌The guide, the first of its kind in Australia, was developed by the RMH metabolic dietitian Anne-Marie Desai (pictured) with the help of the Metabolic Dietary Disorders Association.

PKU, which affects about 1600 Australians, prevents the normal breakdown of phenylalanine (Phe). A regular diet for someone with PKU can cause damage to the brain, or have detrimental health impacts on a baby in utero or after birth.

Women with PKU need a very low protein diet to ensure optimal health for themselves and also their unborn babies, and dietitians in the RMH’s Metabolic Diseases Unit are helping women manage their Phe levels before and during pregnancy.

Anne-Marie hopes the guide will help break down some of the complex information around conception and the condition.

“I have never met a more motivated patient than a pregnant woman with PKU – they are so determined to follow the advice to deliver a healthy baby,” Anne-Marie says.

”I wanted to give something to them they could ‘take’ with them after our consultation, as there’s just so much to remember when managing the condition that they wouldn’t be able to retain in just an hour with us.”

The guide contains low-protein meal plans, snack and recipe ideas, as well as lists of protein substitute products such as low-protein cereals, no protein milk, and egg replacements.

The guide will be distributed around Australia. Patients with the condition can pick up a copy from their treating hospital.