Frequently asked questions
Why can't my child with MCAD deficiency fast for too long?MCAD deficiency is a disorder where the body cannot burn fats in a normal way.If one goes too long without eating between two meals, the body will start to break down body fat to produce energy. Body fat is broken down to fatty acids, and fatty acids are in their turn broken down to shorter fatty acids. In each step some energy is released. Persons with MCAD deficiency cannot normally break down medium-chain fatty acids because the enzyme needed for this is not functioning (properly). This enzyme is called the MCAD enzyme. This causes medium-chain fatty acids to be accumulated in the body. If the body wants to burn fats quickly (because one hasn't eaten in a while or is ill with a fever), then a very high concentration of these medium-chain fatty acids will occur, and this is toxic. This can cause serious complications. Besides this, these persons can also not get energy from burning medium-chain fats, so they rely mostly on sugars from food intake for their supply of energy. A lack of energy can in its turn also cause serious complications. Read more about this in the section on metabolism. See also the section on treatment of MCAD deficiency in normal circumstances and in case of emergencies.
Why do I have to pay special attention if my child vomits, and if it has a fever?If a patient with MCAD deficiency vomits or has diarrhea, then not enough energy can be produced from sugars from food intake. The body will start to burn body fat, but this process doesn't work well in patients with MCAD deficiency.If a patient also has a fever, then the body will break down fats even quicker because the energy demand increases a lot. This can make an already bad situation even worse. See also the page on treatment in case of emergencies for more information.
My child has a so called mild form of MCAD deficiency. Does that mean that we don't have to take the precautions?No!Patients with a mild form of MCAD deficiency will take longer to develop a metabolic crisis. But in the end they will develop a metabolic crisis, and this can have the same serious consequences as in a patient with a severe form of MCAD deficiency. These patients should take the same precautions as patients with a severe form of MCAD deficiency. See also the section on treatment for more information regarding these precautions. The diagnosis of "mild MCAD defiency" can also not be made based solely on the mutations that were found on the gene. See also the page on genetic research. Individual testing and observing is necessary, such as for example measuring the enzymatic activity.
Could I have avoided MCAD deficieny in my child by doing something else during the pregnancy?Certainly not. MCAD deficiency is a genetic defect that was already present at the time of conception. There is nothing you could have done during the pregnancy to avoid MCAD deficiency.Read more about this genetic defect and where it comes from in the section on genetics.
Why can a second child have the same disorder, and would it then be equally serious or mild?MCAD deficiency is a disorder that is inherited from the parents. If parents already have a child with MCAD deficiency then the chance of having an other child with the same disorder is 25%.Read more about this on the page about inheriting the disorder. A next child that would inherit the disorder, would have the exact same genetic mutations than the first child. Because of this we can assume up to a certain level that this child will have a similar mild or serious form of MCAD deficiency. However caution is in order, because at this moment no unambiguous connection has been made between the specific genetic mutation ("genotype") and the way the disorder presents itself in the patient ("phenotype"). Read more about this on the page about genetic research.
Why does my child have to take carnitine supplements?Carnitine is a substance that plays an important role in the fat metabolism. Read more about this on the pages about fat metabolism and the role of carnitine in this.Carnitine is for example used to evacuate the medium-chain fatty acids that cannot be metabolised in a patient with MCAD deficiency. Because the carnitine itself is also evacuated, the patient can develop a carnitine shortage as a result of his MCAD deficiency. The stock of carnitine can then be replenished by taking oral supplements. Read more about taking oral carnitine supplements.
If the newborn screening showed that my child has MCAD deficiency, then why are all these other tests necessary?MCAD deficiency is a disorder that does not have a specific clinical presentation. This means that there are no very obvious symptoms that point unambiguously to MCAD deficiency.Furthermore the child seems to be perfectly healthy if it is not going through a metabolic crisis. In newborn screening is tested for one specific substance in the blood that raises the suspicion for MCAD deficiency (read more about this on the page about newborn screening). This tests sometimes also pick up carriers of the disorder (see the page on inheritance for more info on carriers). So in order to be able to confirm the diagnosis, and make a distinction between carriers and patients with mild MCAD deficiency, further tests are necessary, such as measuring the enzymatic activity and verify the specific mutations on the gene.
Could I have MCAD deficiency myself?MCAD deficiency is a disorder that is inherited from the parents (read more about this on the page about inheritance).
If your child has MCAD deficiency, then you are a carrier (unless it was a spontaneous mutation, but that chance is small). It happens that genetic research on the DNA of the parents than reveal that also one of the parents has MCAD deficiency. The disorder exists in mild and serious forms, and some patients are asymptomatic. Genetic research can give a definite answer.
Why can't my child sleep through
the night? You don't use energy while sleeping, right?
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| This answer was not yet validated by a medical doctor! Please contact your own doctor in case of questions! |
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