Galactosaemia is a rare genetic disorder present from birth and can be life-threatening in the newborn period. In galactosaemia, the body is unable to breakdown a sugar called galactose, which builds up in the body and can cause problems.
Galactose is part of lactose, the main sugar in all animal milks (including breast milk, most infant formulas, cow’s milk, goat’s and sheep’s milk). At present, the treatment for Galactosaemia is a lactose and galactose free diet for life. Galactose and lactose are found in milk and all foods that contain milk. Obvious sources include milk, cheese, yoghurts and butter. However, it is also found in less obvious food sources such as sauces, biscuits, processed meats and chocolate where milk or lactose is added during the manufacturing.
At NCIMD, we have been treating patients with Galactosaemia since it was added to the National Newborn Screening Programme in 1972. Galactosaemia is more common in Ireland than in other countries with around 1 in 19,500 babies born in the Republic of Ireland having Galactosaemia.
Patients with Galactosaemia are managed by the multidisciplinary team. We follow international best practise guidelines. NCIMD have been forerunners in the area of research in Galactosaemia. We have published many papers in international medical journals as well as presenting our experience of management of Galactosaemia at various international conferences. Professor Treacy and Dr. Knerr are currently undertaking lots of research in the area of Galactosaemia. Professor Treacy, Dr. Knerr and Anne Clark (Dietitian) are all involved in the European Galactosaemia Network which are developing guidelines for the management of Galactosaemia. Our dietetic team have developed a number of resources for the management of Galactosaemia.
For more information see: www.galactosaemia.org
For patient stories click here