MCADD - Diagnosing MCADD

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is diagnosed either at birth, through the NHS Newborn Screening Programme or by investigating typical symptoms of MCADD.

Newborn screening

The NHS Newborn Screening Programme was introduced in 2009 to help detect and treat conditions such as MCADD, before a person suffers any life-threatening symptoms. All newborn babies in England are offered routine health checks during the first week of their life, including a blood test, which can be used to screen for MCADD.

During the screening test, the midwife takes blood from your baby's heel. The blood is then checked for abnormalities in the levels and makeup of fats in the blood, which occur when the body is unable to break down fatty acids.

The diagnosis is confirmed using a genetic test. This is done by extracting a sample of DNA from your baby’s blood and checking the genetic information stored in it for mutations known to cause MCADD, such as the 985A>G mutation.

If the diagnosis is positive, you will be referred to a specialist for further investigation.

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Family history

If you and your partner have previously conceived a baby with MCADD, there is a 25% (1 in 4) chance that any children you conceive in the future will also be born with MCADD.

Because of this, it is recommended that babies born in families with a history of MCADD receive specialist monitoring and a feeding regimen until screening test results are known.

If your child is diagnosed with MCADD and they have any siblings who have not been screened before, it's important they are also tested. They may be at risk, even if they have had no symptoms.

You may be asked to bring any siblings to the hospital at the first follow-up appointment after diagnosis.

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