MCADD
The UK NSC policy on Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD) screening in newborns
More Information
Fatty acids are one of the body's fuels: oxidation is the process by which they are broken down to release energy. This process has many steps, each catalysed by a different enzyme. Fatty acid oxidation (FAO) disorders result from deficiency of one of these enzymes.
MCADD is the commonest FAO disorder, affecting between 1 in 10,000 and 1 in 20,000 newborn babies.
Patients with MCADD deficiency are healthy most of the time. Infections or prolonged fasting, however, can lead to drowsiness and coma or sudden death. MCADD is treated through dietary management.
Further information about MCADD and its management can be found in the "Newborn screening for medium chain acyl CoA dehydrogenase deficiency" article, which can be downloaded from the 'related documents' section on this page.
» Read more about MCADD on the Contact a Family website
Policy Position
On 7 February 2007, the English Health Minister announced that all newborn babies in England are to be offered screening for MCADD by March 2009.
As of February 2009, all babies in England are offered screening for MCADD and a reception was held in March 2009 at the Houses of Parliament to launch this successful implementation. See the UCL Institute of Child Health press release.
This policy was reviewed in Feb 2007 and significant changes were made. It is due to be considered again in 2009/10, or earlier if significant new evidence emerges.
Screening in the UK
Compare how screening is offered across the UK.
Evidence Supporting the Policy
A pilot evaluation study to examine the clinical and cost-effectiveness of MCADD screening using Tandem Mass Spectrometry (MS/MS) was commissioned in 2004. Read a summary of the study and interim results. On the basis of these results, and other international evidence, the UK National Screening Committee recommended that newborn screening of all babies for MCADD would be both clinically effective and cost-effective.
Two further reviews of evidence can be found, both published March 2009, in the Loughrey and Bennett BMJ editorial, which can be downloaded the 'related documents' section on this page, and the Leonard and Dezateux review (link below)
Stakeholders
British Dietetic Association
British Inherited Metabolic Disease Group
The British Society for Human Genetics
Children Living with Inherited Metabolic Diseases
Clinical Genetics Society
Genetic Alliance UK
Institute of Child Health
Rare Disease UK
Royal College of General Practitioners
Royal College of Midwives
Royal College of Paediatrics and Child Health
Royal College of Pathologists
Royal College of Physicians
Save Babies Through Screening Foundation UK
Specialised Healthcare Alliance
The stakeholder groups will be involved when the policy is next reviewed. If you think your organisation should be added, please contact us.
