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The UK NSC recommendation on Glutaric Aciduria Type 1

 
Recommendation Systematic population screening programme recommended
Last review completed May 2014
Next review due in 2017/18
 
Key downloads
 

Find general information about population health screening.

Why is screening recommended by UK NSC?

The UK NSC has recommended screening for Glutaric aciduria type 1 (GA1) within the current Newborn Blood Spot Screening Programme. A one year evaluation of screening in the UK found that screening for this rare inherited organic acid disorder will identify babies early and lead to treatment to help prevent serious problems developing.  

More about GA1

A baby with Glutaric Aciduria Type 1 (GA1) has problems breaking down the particular amino acids lysine and tryptophan.

In children with GA1, a minor illness, such as a chest infection or a tummy upset, can lead to serious problems and the child would require immediate hospital treatment. Early signs may be vomiting, excessive sleepiness and breathing difficulties.

Without treatment the child can go into a coma and many patients die in early adulthood. If they recover from the coma there is a high likelihood of brain damage that can affect their ability to control muscles and movements. This means that they may be unable to sit, walk, talk or swallow.

>>More information about GA1 can be found on NHS Choices

Some frequently asked questions on the expanded blood spot policy were developed following the 2014 recommendations and can be found here

Screening in the UK

Compare how screening is offered across the UK.

Stakeholders

British Inherited Metabolic Disease Group
Children Living with Inherited Metabolic Diseases
Clinical Genetics Society
Genetic Alliance UK
Institute of Child Health
MetBio
Rare Disease UK
Royal College of General Practitioners
Royal College of Midwives
Royal College of Paediatrics and Child Health
Save Babies Through Screening Foundation UK
UK Newborn Screening Laboratories Network

The stakeholder groups will be involved when the recommendation is next reviewed. If you think your organisation should be added, please contact us. More information for stakeholders can be found in appendix C of the UK NSC evidence review process.

Recommendation Review History

The policy was first recommended in 2014 following the conclusion of a one year study between 2012 and 2013 that included GA1 and four other conditions.

Related documents

icon Birth Prevalence of Five Inherited Metabolic Disorders (PDF document, 513KB, 06/05/14)
icon Consultation Responses to the 2014 ENBS Review (PDF document, 1.03MB, 06/05/14)
icon ENBS Health Economics Report (PDF document, 561KB, 06/05/14)
icon FAQs for the Expanded Blood Spot Review (PDF document, 117KB, 06/05/14)

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