What is MCADD?
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare but treatable inherited disorder.
Babies with MCADD have inherited two faulty copies of the gene for MCADD, one from each parent.
Babies with MCADD have a problem breaking down fats quickly enough to produce energy.
MCADD only causes problems when fats need to be broken down quickly – for example if a baby has not eaten for a long period or if they have an infection. If this happens it may cause low blood sugar and a build-up of fats. This can create toxic substances that can lead to serious symptoms.
Babies with MCADD benefit significantly from effective treatment and can live healthy and active lives.
Without early treatment, the condition can lead to serious illness and possibly death.
Symptoms of MCADD
Babies with MCADD are at risk of developing the following symptoms:
- poor feeding
- drowsiness
- sleepiness
- vomiting
- lethargy
- seizures
These symptoms can be controlled with treatment. Left untreated, babies with MCADD can deteriorate, have fits and slip into a coma which can be life threatening.
When babies with MCADD become ill, they might show symptoms of metabolic crisis. A metabolic crisis is a period of time when the effects of the condition make your child seriously ill. Some babies with MCADD might not develop symptoms of a metabolic crisis until later on in the first year of life or later in childhood. Causes of a metabolic crisis can include an infection such as a stomach upset or vomiting illness.
Treatment
Babies with MCADD do not need any special medications. Day to day management is to avoid prolonged periods without eating.
Babies with MCADD should feed regularly and it is fine for them to be breast or bottle fed. As they grow, they should eat a normal healthy diet and be treated like any other child.
The specialist metabolic team will see you regularly throughout your child’s life and your child will remain under their care. The specialist dietitian will discuss age appropriate advice on feeding. For example they will discuss when to wean, safe fasting times and illness management. This includes the preparation and use of emergency regimen feeds.