Diagnosis & Treatment

Making the Diagnosis

Someone with galactosaemia is unable to break down and use galactose. The main dietary source of galactose is lactose which is found in milks. This is why the baby becomes unwell, usually in the first week, having appeared completely normal at birth. Galactose and galactose-1-phosphate levels rise in the baby’s blood and he/she becomes ill.

Signs of liver disease including jaundice, lethargy, poor feeding and weight loss are very common. The severity of the liver disease varies a lot. Babies can also be prone to infection at this stage, although this does not continue to be a problem. Cataracts may also be present. These symptoms are not just seen in galactosaemia and the paediatrician looking after your baby will do a range of tests to make the diagnosis.

The diagnosis is made by measuring the level of the enzyme in your baby’s blood. If he/she has been given a blood transfusion your doctor may need to take blood from both parents to make the diagnosis.

Once the galactose-free diet has been started the liver disease will disappear and the baby will start to gain weight normally. Over time the cataracts will also disappear.

What is the Treatment for Galactosaemia?

The most important part of the treatment is to exclude galactose from the diet. The main source of this in the diet is lactose in milk and milk products. This means that people with galactosaemia have a special milk and cannot eat any foods containing milk like butter and yoghurt.

Many packet or tinned foods contain milk in some form so you need to check all types of manufactured food to see if they contain milk before using. ‘Whey’ and ‘casein’ are derived from milk and need to be avoided. Galactose is even found in some medicines (particularly those in tablet form). This sounds very difficult at first but you will be in close touch with a dietitian who will always be able to help if you need to check anything.

Foods are labelled much more clearly now than in the past and the Galactosaemia Support Group can provide a lot of extremely helpful information, including a booklet about the diet and lactose-free lists of manufactured foods that are suitable to eat.

You will soon become confident in dealing with the diet and remember help is always available. The diet should be continued throughout life. In some adults, however, occasional lapses do not seem to cause problems.

What will happen once the Baby is on the Diet?

The paediatrician will make sure the liver disease and cataracts have disappeared completely and will then make sure that the baby grows normally. There should be no long-term liver or eye problems. He/she will need regular medical and developmental checks which will be organised for you. At first, these appointments will be quite often but gradually they will be less frequent.

Other than excluding galactose the baby, child and adult with galactosaemia can be treated as completely normal. If a medicine needs to be given urgently for a serious illness the possibility of the medicine containing lactose is less important than the illness being treated. Immunisations should be given at the normal time.