Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare inherited condition. If it is not found quickly and treated, it can be life-threatening.
MCADD is when your body has problems breaking down fat to use as energy. This leads to a lack of energy and a build-up of harmful substances in the body.
Screening for MCADD
Babies are screened for MCADD as part of heel prick screening. They are offered heel prick screening when they are 3 to 5 days old.
If your baby has MCADD
If your baby has MCADD, they can get treatment which will reduce the risk of serious complications.
Your baby will be seen in the National Centre for Inherited Metabolic Disorders (NCIMD), Children's Health Ireland at Temple Street. They will be cared for by a specialist metabolic team, including a metabolic doctor, nurse and dietitian.
Your baby can become very ill at times when their body needs more energy than it's getting. For example, if they have an infection or a vomiting illness and are unable to eat.
With proper care, your baby can live a full and healthy life.
Symptoms of MCADD
Symptoms of MCADD include:
- feeling unusually tired and sluggish
- vomiting (getting sick)
- excessive sweating
- rapid breathing
- seizures (fits)
Left untreated, more serious and life-threatening problems can develop. For example, brain damage or coma.
When to get medical help
Contact your metabolic team if your child becomes unwell.
They will give you an emergency medical letter and management plan.
If your child is unable to tolerate their emergency management plan, take them to your nearest emergency department (ED).
Emergency action required: Go to your nearest emergency department (ED) if your baby:
- cannot keep their emergency feeds down
- has a high temperature that does not go down
- has symptoms that are getting worse
- has symptoms of a metabolic crisis, such as loss of energy, breathing difficulties or extreme irritability
Take the emergency medical letter from the metabolic team with you. This is in case the doctors have not seen MCADD before.
When in hospital, your baby can be monitored and treated with intravenous fluids (given directly into a vein).
Treating MCADD
A metabolic team will give you advice about how to look after your baby and support them as they get older.
Children and adults with MCADD can have a normal diet, as long as they:
- take special high sugar (glucose) drinks when they are ill
- avoid long periods without eating during the newborn period and infancy
Feeding your baby who has MCADD
Your specialist metabolic dietitian will give you advice about feeding your baby.
Breastfeeding is still possible if your baby has MCADD. But top-up feeds may be recommended while breastfeeding is being established.
The dietitian will tell you how to manage fasting times between your baby's feeds. Some babies will need more feeds than others.
Someone with MCADD must avoid foods that are high in medium-chain triglyceride (MCT) fats. For example, coconut and coconut oil.
High sugar (glucose) drinks
You can get high sugar (glucose) drinks on prescription from your metabolic team. They will tell you when to use them and how much to use.
Your child usually needs to take them when they have common symptoms such as:
If the drinks do not help or your child refuses them, they may need to go to hospital for intravenous fluids.
How a child inherits MCADD
The gene that causes MCADD is passed on by parents. The parents do not usually have the condition themselves.
If a baby inherits the gene from 1 parent, they will not have MCADD. But they will be 'a carrier'.
If you're a carrier of the affected genes and have a baby with a partner who is also a carrier, your baby has a:
- 1 in 4 chance of developing MCADD
- 1 in 2 chance of being a carrier of MCADD
- 1 in 4 chance of receiving a pair of normal genes
More information
You can get more information about MCADD at the National Centre of Inherited Metabolic Disorders.
Patient and family information and support - metabolic.ie
To speak to a metabolic doctor contact CHI at Temple Street.
Phone: (01) 878 4200