We reviewed the evidence for screening newborn babies for galactosaemia in order to prevent or reduce death and illness, to improve clinical outcomes in affected babies and to improve the quality of life in affected older children.
Galactosaemia is an inherited disease that affects the body’s ability to breakdown the milk sugar galactose. Newborn babies with galactosaemia can have a variety of symptoms in the first weeks of life including poor feeding, cataracts, jaundice, an enlarged liver with liver failure or severe infection. Without treatment, babies with galactosaemia are often very unwell and highly likely to die from liver failure. Unfortunately, despite treatment, long-term complications for people with galactosaemia include learning difficulties and fertility problems (in females).
The evidence is current to: 11 October 2017.
No studies were identified for inclusion in the review.
No suitable studies were found, but we are aware of some uncontrolled studies which suggest newborn screening for galactosaemia and early treatment can reduce death and illness. Future research is needed to provide robust evidence for or against screening.
Quality of the evidence
We have not identified any relevant studies for inclusion in this review.