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Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
What is MCADD?
MCADD is a rare but treatable inherited disorder
Babies with MCADD inherit 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 when a baby has not eaten for a long period or when they are unwell.
If this happens, MCADD can cause low blood sugar and a buildup of certain fats.
This can make toxic substances that can lead to serious symptoms. Babies with MCADD benefit significantly from early treatment and can live healthy and active lives.
Without early diagnosis and treatment, MCADD can lead to serious illness and possibly death.
Symptoms of MCADD
Babies with MCADD are at risk of developing the following symptoms:
These symptoms can be controlled with treatment. Left untreated, babies with BCADD can deteriorate, have fits and slip into 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 when the effects of the condition make babies 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 metabolic crisis can include an infection such as a stomach upset or vomiting illness.
What treatment is available?
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 the child’s life and your child will remain under their care. The specialist dietitian will discuss age appropriate advice on feeding.
If babies are ill
During illness, babies with MCADD need to be manage correctly to prevent serious illness or even death.
If babies become ill or is not feeding well they should be given a special high sugar drink (also known as glucose polymer). This is called the emergency regimen. It is given without delay and frequently, day and night. Sugar free and low calorie drinks are not suitable.
The emergency regimen is given to provide the body with plenty of energy to help prevent the breakdown of body fats.
The metabolic dietitian will provide detailed instructions on how to give the emergency regimen.
If you are worried that your baby is not improving or not taking the entire emergency regimen, then you should take them to the accident and emergency department of your local hospital and contact your metabolic team.
How is MCADD inherited?
MCADD is inherited in an autosomal recessive manner. It affects both boys and girls equally.
Everyone has a pair of genes that make the MCADD enzyme. In children with MCADD, neither of these genes works correctly. These children inherit one non-working gene for the condition from each parent.
Parents of children with MCADD rarely have the disorder. Instead, each parent has a single non-working gene for MCADD. They are called carriers. Carriers do not have MCADD because the other gene of this pair is working correctly. When both parents are carriers, there is a 25% chance in each pregnancy for the child to have MCADD. There is a 50% chance for the child to be a carrier, just like the parents. And, there is a 25% chance for the child to have two working genes.
Is genetic testing available?
Genetic testing for MCADD can be done on a blood sample. Genetic testing, also called DNA testing, looks for changes in the pair of genes that cause MCADD. In many children with MCADD, both gene changes can be found. However, in other children, only one or neither of the two gene changes can be found, even though we know they are present.
DNA testing is not necessary to diagnose your child. It can be helpful for carrier testing or prenatal diagnosis, discussed below.
Any other testing available?
MCADD can also be confirmed either by a blood test called an acylcarnitine profile or an enzyme test on a skin sample. Talk to your doctor or your genetic counselor if you have questions about testing for MCADD.
Can you test during pregnancy?
If both gene changes have been found in your child with MCADD, DNA testing can be done during future pregnancies. The sample needed for this test is obtained by either CVS (Chronic Villus Sampling) or amniocentesis.
If DNA testing would not be helpful, an enzyme test can be done during pregnancy on cells from the fetus. Again, the sample needed for this test is obtained by either CVS or amniocentesis.
Parents may either choose to have testing during pregnancy or wait until birth to have the baby tested. A genetic counselor can talk to you about your choices and answer questions about prenatal testing or testing your baby after birth.
More information and support
CLIMB (The National Information Centre for Metabolic Diseases) provides information and support for people with MCADD and their families: www.climb.org.uk
NHS Newborn Blood Spot Screening Programme: www.nhs.uk/bloodspot
Causes of metabolic crisis can include an infection such as a stomach upset or vomiting illness.
Genetic testing for MCADD can be done on a blood sample. Genetic testing, also called DNA testing, looks for changes in the pair of genes that cause MCADD. In many children with MCADD, both gene changes can be found. However, in other children, only one