The MCADD Programme

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MCADD (Medium-chain acyl-CoA dehydrogenase deficiency)

The Programme Centre is delighted to announce that as of February 2009 all babies in England are offered screening for MCADD.

 About 1 in 10,000 babies born in the UK has MCADD. Babies with this inherited condition have problems breaking down fats to make energy for the body. This can lead to serious illness, or even death. Screening means that most babies who have MCADD can be recognised early, allowing special attention to be given to their diet, including making sure they eat regularly. This care can prevent serious illness and allow babies with MCADD to develop normally. Screening babies for MCADD is important, so those with the condition can be identified before they become suddenly and seriously ill.

MCADD Extended Mutation Screening (EMS) in England as of 1st July, 2010
Since the inception of the MCADD Screening Programme for England the Extended Mutation Screening (EMS) for MCADD has when required, been performed in the laboratory of Professor Brage Andresen in Denmark. However it was planned that from 2010 the EMS analyses would be provided from laboratories in the UK.

We have been delighted with the collaboration with Professor Andresen and the huge contribution he has made to the MCADD screening pilot project and the development of the screening programme. We plan to continue to work closely with him and continue to gain from his expertise and experience in the molecular genetics of MCADD.

From 1st July the extended mutation screening, when required, as part of the diagnostic protocol for MCADD will be performed in the UK by two laboratories; the DNA Laboratory - GSTS Pathology at Guy's Hospital London and Sheffield Diagnostic Genetics Service at Sheffield Children's NHS Foundation Trust (the EMS referral forms for each lab located in the attached files below).

Guidance/instructions for MCADD EMS England can be found in the attached files below.

Resources

The documents below support the MCADD Screening Programme.

Laboratory handbook

C8:C10 methodology

Newborn screening protocol

Lab notification of a presumptive positive to MCADD team

Lab notification of presumptive positive to UKNSPC

Sibling testing protocol

Importance of taking a family history

Pregnant with a family history of MCADD - parent information

GP letter template

Local consultant letter template

A&E / hospital letter template

Dietitian letter template

EMS cover letter

GSTS EMS referral form

Sheffield EMS referral form

Instructions for EMS labs

EMS contacts

Diagnostic protocol

Clinical management protocol

Initial clinical referral guidelines and standards

Gene dossier for MCADD