What else is it called?

  • Classical Galactosaemia 

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What causes it?

Galactosaemia is an inherited metabolic condition. It affects the way your body breaks down galactose, a type of sugar found in foods. 

Galacosaemia means too much galactose in the blood. 

Galactose mainly comes from lactose. Lactose is the sugar found in milk, milk products, yoghurt and most cheese. 

Galactose provides energy, but first needs to be broken down into glucose. 

Galactose is a building block of carbohydrate chains. It joins with proteins to form glycoproteins and fats (lipids) to form glycolipids. These are important in cell structure. 

Galactose is converted into glucose by enzymes (enzymes help chemical reactions). 

In Galactosaemia, the body is short of the enzyme that converts galactose into glucose. The enzyme is called galactose-1-phosphate uridyl transferase. This leads to a build-up of galactose and other related chemicals leading to symptoms. 


How common is it?

In the UK, Galactosaemia is estimated to occur in 1 in every 45,000 births. 

What are the signs and symptoms?

Many babies are very poorly and early symptoms include: 

  • Vomiting/poor feeding 
  • Severe jaundice 
  • Liver dysfunction 
  • Bacterial Infections 
  • Cataracts (clouding of the lens of the eye) 

Even with treatment, some people have: 

  • Learning difficulties 
  • Speech problems 
  • Ovarian problems causing infertility 
  • Lower bone density 
  • A tremor 

Galactosaemia is a serious inherited metabolic disorder that may cause life threatening symptoms if left untreated. 

Symptoms will improve if treated with a milk-free special formula and milk-free diet. Milk containing products are avoided and all food labels must be checked.  

People with Galactosaemia should lead healthy and active lives, but some may develop learning difficulties and fertility problems. Regular follow-ups should be continued throughout childhood and adulthood at a specialist centre. These may be more frequent during late childhood and adolescence if you are a female, so your specialist can monitor your development. 

How is it diagnosed?

Galactosaemia is usually diagnosed by looking at enzyme levels in the blood and at the body’s genes. 

Can it be treated?

Galactose is found in breast milk, infant formula and many foods. It is therefore necessary to: 

  • Avoid all animal milk (including breast milk) 
  • Avoid yoghurt, most cheese and milk products 
  • Avoid milk in packet and processed foods 

Babies are given a milk-free infant formula. They are given milk-free weaning foods. Check all labels to see foods and medicines are milk-free. 

If your baby is diagnosed, it is essential that breast milk and all standard infant formula is stopped. Your baby will be given a special milk-free formula instead. 

Once treatment has been started, babies generally start to improve within a few days. There should be no long-term liver problems. Cataracts usually disappear but the doctors will continue to monitor the eyes. 

Galactose is monitored by blood tests, height and weight checks, child development and eye checks and regular diet checks by the dietitian. 

Other dietary considerations 

There are some exceptions in the diet. The Galactosaemia Support Group have funded testing of certain foods and found that they are low enough in galactose to the safe in the diet e.g certain hard cheeses and ghee. Speak to your dietitian for details. This web link may also provide some helpful information.  

Lactose free or lacto free foods should be avoided. This is because the lactose has been removed by adding an enzyme that breaks down lactose in galactose and glucose. This means it still contains a high amount of galactose.  

Due to the avoidance of milk, there is a risk of calcium and vitamin D deficiency. Your dietitian will check this for you in your clinic appointment.  

 Helpful hints: 

  • Always ensure you have a good supply of milk-free formula and that it is in date. This is prescribed by your GP and obtained via a pharmacy. 
  • Check all medications for lactose or galactose on the ingredient list.  
  • Remember to keep contact numbers of your metabolic team to hand. 

Do my family need to be tested?

Humans have chromosomes composed of DNA. Genes are pieces of DNA that carry the genetic instruction. Each chromosome may have several thousand genes.  

The word mutation means a change or error in the genetic instruction.  

We inherit particular chromosomes from the egg of the mother and sperm of the father. 

The genes on those chromosomes carry the instruction that determines characteristics, which are a combination of the parents. Galactosaemia is an inherited condition. There is nothing that could have been done to prevent your baby from having galactosaemia. 

Everyone has a pair of genes that make the galactose-1-phosphate uridyl transferase enzyme. In children with galactosaemia neither of these genes work correctly. These children inherit one non-working galactosaemia gene from each parent. 

Parents of children with galactosaemia are carriers of the condition. 

Carriers do not have galactosaemia because the other gene of this pair is working correctly. 

When both parents are carriers, in each pregnancy the risk to the baby is as follows: 

  • 25% chance (1 in 4) of Galactosaemia 
  • 50% chance (1 in 2) for the baby to be a carrier of Galactosaemia. 
  • 25% chance (1 in 4) for the baby to have two working genes and neither have Galactosaemia or be a carrier. 

Diagram showing the autosomal recessive inheritance pattern.

Relevant Organisations

For further help and support with Galactosaemia, visit the Galactosaemia Support Group in the UK. 

The Galactosaemia Support Group aims to promote contact between those living with Galactosaemia and their respective families, promote public awareness of the condition and raise funds for the financing of research. Both families with galactosaemic children and adult galactosaemics are able to share experiences, help each other with problems and exchange information and ideas.  


References are available on request. Please contact us by phoning 0845 241 2173 or emailing [Resource Library No: GCM005].

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