Galactosaemia (policy currently under review)
The UK NSC policy on Galactosaemia screening in newborns
More Information
Babies with galactosaemia usually present in the first days and weeks of life with feeding difficulties, vomiting, jaundice, failure to thrive, liver and kidney disease due to their inability to convert galactose, a sugar present in milk, into glucose, the sugar used by the body.
» Read more about galactosaemia on the Contact a Family website
Notes
This policy was last reviewed in July 2006 but no significant changes were made.
Policy Position
Screening for this condition should not be offered.
This policy is currently being reviewed as part of the UK NSC's regular review cycle of all policies.
The review process began in Jan 2010 and is estimated to be completed by Mar 2013.
Evidence Supporting the Policy
Health Technology Assessment 1997; Vol. 1: No. 11. Newborn screening for inborn errors of metabolism: a systematic review (Seymour et al) (see pages 13-16 for the review of galactosaemia)
Health Technology Assessment 1997; Vol. 1: No. 7. Neonatal screening for inborn errors of metabolism: cost, yield and outcome (Pollitt et al)
Stakeholders
Children Living with Inherited Metabolic Diseases
Genetic Alliance UK
Royal College of Midwives
Royal College of Paediatrics and Child Health
The stakeholder groups will be involved when the policy is next reviewed. If you think your organisation should be added, please contact us.
