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The UK NSC recommendation on Isovaleric acidaemia

 
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 Isovaleric Acidaemia (IVA) within the current Newborn Blood Spot Screening Programme. A one year evaluation of screening in the UK concluding 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 IVA

A baby with IVA has problems breaking down the amino acid, leucine. For people with IVA, eating too much protein can cause harmful substances to build up in the blood.

Babies with IVA can become severely unwell. Early signs may be vomiting, excessive sleepiness, floppiness and rapid breathing.

Without treatment, IVA can lead to a coma and permanent brain damage. Some babies with IVA have problems within a few days of birth; other children become unwell at a few months or years of age, maybe during a minor illness, such as a chest infection or a tummy upset.

IVA can vary in severity – it is only severe cases that the screening programme aims to identify.

More information about IVA can be found on NHS Choices.

Some frequently asked questions were developed following the 2014 expanded newborn blood spot policy recommendations 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 IVA and four other conditions.

Related documents

icon Birth Prevalence of Five Inherited Metabolic Diseases (PDF document, 513KB, 06/05/14)
icon Consultation Comments (PDF document, 1.03MB, 06/05/14)
icon ENBS Health Economics Report (PDF document, 561KB, 06/05/14)
icon FAQs for the ENBS Review (PDF document, 117KB, 06/05/14)

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