Newborn screening for galactosaemia
Abstract
Background
Classical galactosaemia is an autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme galactose‐1‐phosphate uridyltransferase. This is a rare and potentially lethal condition that classically presents in the first week of life once milk feeds have commenced. Affected babies may present with any or all of the following: cataracts; fulminant liver failure; prolonged jaundice; or Escherichia coli sepsis. Once the diagnosis is suspected, feeds containing galactose must be stopped immediately and replaced with a soya‐based formula. The majority of babies will recover, however a number will not survive. There are long‐term complications of galactosaemia, despite treatment, including learning disabilities and female infertility. It has been postulated that galactosaemia could be detected on newborn screening and this would prevent the immediate severe liver dysfunction and sepsis.
Objectives
To assess whether there is evidence that newborn screening for galactosaemia prevents or reduces mortality and morbidity and improves clinical outcomes in affected neonates and the quality of life in older children.
Search methods
We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Trials Register comprising references identified from electronic database searches, handsearches of relevant journals and conference abstract books. We also searched online trials registries and the reference lists of relevant articles and reviews.
Date of the most recent search of Cochrane Cystic Fibrosis Group's Trials Register: 18 December 2017.
Date of the most recent search of additional resources: 11 October 2017.
Selection criteria
Randomised controlled studies and controlled clinical studies, published or unpublished comparing the use of any newborn screening test to diagnose infants with galactosaemia and presenting a comparison between a screened population versus a non‐screened population.
Data collection and analysis
No studies of newborn screening for galactosaemia were found.
Main results
No studies were identified for inclusion in the review.
Authors' conclusions
We were unable to identify any eligible studies for inclusion in this review and hence it is not possible to draw any conclusions based on randomised controlled studies. However, we are aware of uncontrolled studies which support the efficacy of newborn screening for galactosaemia. There are a number of reviews and economic analyses of non‐trial literature suggesting that screening is appropriate.
PICOs
Plain language summary
Screening newborn babies for galactosaemia
Review question
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.
Background
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).
Search date
The evidence is current to: 11 October 2017.
Study characteristics
No studies were identified for inclusion in the review.
Key results
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.
