Galactosaemia is a very rare metabolic disorder that is caused by the accumulation of galactose, a sugar present in milk, breast milk and most formulas (also known as lactose). It is for this reason that babies diagnosed with galactosaemia cannot breastfeed and need to be on a milk-free diet for life. In most cases the baby is put onto
Soy-based formulas.
Babies with galactosaemia are generally not unwell in the first 48 hours after birth. In later days they can suffer from severe, prolonged jaundice and infections and may be ill with vomiting and diarrhoea to the point of the disorder being life-threatening, until they are diagnosed and started on special milk without galactose. The aim is to start treatment as soon as the disorder is detected.
It is possible for children with galactosaemia to have learning difficulties and in some cases require speech therapy. The baby may also have eye problems within a few months of life (called cataracts or a clouding of the eye lens). It is for this reason that babies with galactosaemia should have their eyes tested by an
Ophthalmologist.
Galactosaemia affects about 1 in every 40,000 babies (or 0.000025%). The disorder can be carried by healthy parents and passed onto their baby (in 25% of cases), if both parents carry the gene for galactosaemia. When both parents are healthy but carry the galactosaemia gene they have a 25% chance of having a baby who has galactosaemia, a 50% chance of having a baby who is a healthy carrier of the galactosaemia gene (like themselves) and a 25% chance of having a baby who is neither a carrier nor a sufferer of galactosaemia.
It is possible for parents with a family history of galactosaemia to be tested to see if they carry the gene. This can give them the opportunity to have genetic counselling prior to conceiving a baby or to consider genetic tests for their baby early in the pregnancy to detect galactosaemia.