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The MCADD programme


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Medium-chain acyl-CoA dehydrogenase deficiency (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 and your child leaflet (NEW!)

This leaflet is to be given to families after the first contact with health care professionals (either their GP, paediatrician, midwife, health visitor or nurse specialist). It provides further information about MCADD, a step-by-step guide to how their child will be followed-up by health care professionals, answers to some common questions, a place to record their own questions and details for their MCADD team and sources of further information and support.

MCADD Parent Information

A new page dedicated to making the parent information more accessible is now available. This page has all the documents needed for MCADD families, some commonly asked questions about MCADD and links to a support organisation.

MCADD Screening

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

Screening for MCADD in Wales commenced in June 2012. For more information please visit the Newborn Bloodspot Screening Wales website.


MCADD extended mutation screening (EMS) in England as of 1st July, 2010

Since the inception of the MCADD screening programme in England, the extended mutation screening (EMS) for MCADD has, when required, been performed in the laboratory of Professor Brage Andresen in Denmark. 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 below.

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