MCADD: the importance of taking a family history
Updated 26 November 2020
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Babies with a family history of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) may require additional care. This may include an early newborn blood spot screening test.
It is always important to establish whether there is a family history of MCADD so that timely action can be taken. If a family history of MCADD is reported, the healthcare professional should:
- refer parents antenatally to a paediatrician or genetic counsellor for advice
- make an informed birth plan with the parents
- ensure colleagues are aware of the risk of MCADD and the care required after birth
Family history
If a mother or her partner has a family history of MCADD you should make a referral to a paediatrician or genetic counsellor for advice. This advice should form the basis of a birth plan (making sure the birth plan is written in the mother’s notes).
Depending on the risk of the baby having MCADD, the parents may be advised that their baby needs early screening for MCADD. A sample of blood should be collected 24 to 48 hours after birth on a blood spot card marked ‘Family history of MCADD’. The parents will also be given information about any special treatment required after the birth of their baby.
Management
Prior to receiving the screening results, it is essential to ensure that the baby maintains a good milk intake. A term baby should be fed every 4 hours and a preterm baby should be fed every 3 hours.
Exclusively breastfed babies are at higher risk during the first 72 hours when the supply of breast milk is poor. Top up feeds of expressed breast or formula milk may be necessary in the first 48 to 72 hours until a good milk supply is established. If oral feeds are not tolerated or if the baby is unwell in any way, an urgent referral should be made to a paediatrician for review and consideration on nasogastric tube feeds or commencing intravenous glucose.
If MCADD is confirmed, follow the standard MCADD clinical and dietary management guidelines.
About MCADD
During long periods between eating, the body breaks down its own fat stores to produce energy. People with this inherited condition MCADD lack one of the enzymes needed to do this. They can break down the stored fat partly but not completely. There is a hold up at the ‘medium-chain fat’ step where the enzyme needed to complete the breakdown is not working properly. This causes a build-up of medium-chain fats.
Sometimes there is a need to break down fats quickly, for example when there is an extended period of not eating or when there is an infection. People with MCADD can’t do this. The medium-chain fats can build up and make toxic substances that may lead to serious symptoms.
If this condition is not diagnosed early or is ignored and not treated by following simple advice from a specialist medical team, it could lead to serious illness and possibly death. Fortunately, once it has been diagnosed, MCADD is usually quite straightforward to manage and children with this condition can lead healthy lives.