Your baby’s screening result – Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is suspected
Your baby’s newborn bloodspot test (heel prick test) suggests they may have medium-chain acyl-CoA dehydrogenase deficiency (MCADD).
Your baby will need more tests to confirm whether they have MCADD.
What is MCADD?
MCADD is a rare but treatable inherited metabolic disorder.
Babies with MCADD are unable to break down fats quickly enough to produce energy.
MCADD only causes problems when fats need to be broken down quickly, for example when a baby has not eaten for a long time or when they are unwell. If this happens, MCADD can cause low blood sugar and a build-up of certain fats and harmful substances in the body. If left untreated, MCADD can lead to serious illness and long term health problems.
With early diagnosis and treatment, babies with MCADD can grow and develop normally, and people with MCADD can live healthy, active lives.
What happens next?
A specialist metabolic team will more tests to confirm whether your baby has MCADD.
It may take a few days for you to receive the results of these tests. During this time, you can continue to breast feed or bottle feed your baby as normal.
If your baby becomes unwell or you are worried they aren’t feeding properly, please get medical help.
If tests confirm that your baby has MCADD, you will receive further support and care from the specialist team. They will explain the condition in more detail, answer your questions and start treatment quickly.
How you might be feeling
It’s completely natural to feel worried and unsure when your baby needs further tests. You can find more information and support from the following groups:
Metabolic Support UK
- Website: www.metabolicsupportuk.org
- Phone: 0845 241 2173 or 0800 652 3181
- Email: [email protected]
The British Inherited Metabolic Diseases Group (BIMDG) website has a useful booklet about MCADD.