An abnormal build-up of the sugar galactose, due to a deficient enzyme

  • Present from birth
  • Due to an abnormal gene inherited from both parents
  • Gender and lifestyle are not significant factors

Galactosaemia is a rare condition in which harmful amounts of galactose, a sugar that is present in milk, build up in a baby’s body tissues. Normally, an enzyme in the liver converts galactose into glucose, but in galactosaemia this enzyme is deficient. If the disorder is not treated, high levels of galactose accumulate, leading to serious damage to the liver, brain, and eyes. In the UK, the disorder affects about 1 in 70,000 infants. Galactosaemia is caused by an abnormal gene inherited in an autosomal recessive manner (see Gene disorders).

What are the symptoms?

Symptoms of galactosaemia appear in the first few days of life, often after the baby’s first milk feeds, and include:

  • Vomiting and diarrhoea.

  • Failure to gain weight.

  • Yellow coloration of the skin and the whites of the eyes (see Neonatal jaundice).

If not treated, cataracts, chronic liver failure, and generalized learning disabilities may develop.

What might be done?

If a newborn infant develops the above symptoms, the doctor may suspect galactosaemia and arrange for the baby’s urine to be tested for the presence of galactose. If galactosaemia is confirmed, you will be advised to exclude galactose from your baby’s diet and to use milk substitutes in feeds. Usually, a galactose-free diet is recommended throughout childhood and, in some cases, for life. With early treatment, affected children may develop normally, but most have at least mild learning difficulties.

From the 2010 revision of the Complete Home Medical Guide © Dorling Kindersley Limited.

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