Medium chain acyl-CoA Dehydrogenase is an inherited condition that affects approximately 1 infant in every 5,000-12,000 infants. Children with MCAD deficiency are incapable of breaking down fats into energy. This could be as a result of an inactive or absence of the enzyme Medium chain acyl-CoA Dehydrogenase. MCAD deficiency is associated with metabolic crisis including hypoglycemia (low blood sugar level), seizures, weakness, and nausea. It can be detected early in infants, when they are about 3 to 6 months of age, through newborn screening. However, since people are different, and so are babies, there are those who may not exhibit any symptoms until they are older. As a matter of fact, there are people who will experience their first symptoms of MCAD deficiency when they are already adults.
Can MCAD Deficiency Go Away On Its Own?
If treatment is successful, the baby can live a long healthy and almost normal life. However, MCAD deficiency cannot be cured. Therefore, treatment will be essential for the rest of your child’s life. Furthermore, MCAD deficiency will not go away on its own, and treatment is necessary to avoid any fatalities including death. If not treated, your baby with MCAD deficiency will develop metabolic crisis which is characterized by low blood sugar levels. As a result, your baby will exhibit symptoms such as lethargy, vomiting, seizures, coma and even death. In the case of multiple episodes of metabolic crisis, the body can suffer body tissue damage due to the low blood sugar levels in the body.
Common symptoms after multiple episodes of metabolic crisis include; prevalent muscle pain and weakness, reduced tolerance to exercises, and brain disorders including aphasia and attention deficit disorder. Other complications one may experience if MCAD deficiency is not managed are enlarged liver, hypoketotic hypoglycemia, and elevated levels of substances such as acylglycines in the blood or urine.
How To Manage MCAD Deficiency?
It is crucial that MCAD deficiency is managed without delay to avoid any life-threatening situations. Energy plays a vital role in the human body and is required for a number of functionalities within the body. The main source of energy for the body is glucose; however, it can easily run out. The secondary source of energy is fats, both from the food we eat and stored fats. If the body, or rather the enzyme responsible for breaking down is ineffective, then the body will turn back to glucose for energy, and if there is no more glucose for energy, complications will arise. Worst case scenario, if MCAD deficiency is not treated, one can fall into a coma or even die.
MCAD deficiency crisis episodes are triggered by long periods of starvation. Therefore, the first approach to managing this disorder is by ensuring that the baby feeds regularly. In other words, avoid long periods of fasting. Eating frequently ensures that there’s enough glucose from food to provide energy for the body, and it does not have to rely on other sources. In addition to that, try to incorporate a rich in carbohydrate and a low-fat diet for your baby. Carbohydrates are the major sources of sugars (glucose), and thus will suffice in ensuring there is enough glucose to provide energy for the body.
Secondly, supplementation can be considered in managing MCAD deficiency. In particular, supplementation of carnitine or L-carnitine, which is a natural chemical which helps the body produce energy. It also helps remove any harmful toxins released in the blood due to the lack of fat breakdown. Finally, ensure that you are in constant communication with your doctor, in case of an emergency, illnesses included. This is because, if your baby is sick, the body requires more energy so as to fight the ailment.
Needless say, during such times, the baby’s appetite may be low and does not want to feed. So, to ensure that all factors are considered that could result in grave complications, ensure that you keep your caregiver in the know on the baby’s status on a regular basis.
MCAD deficiency cannot go away on its own, and even after treatment, the disorder is still predominant. This is basically because there is no way to amend the genetic disorder, and hence can only be managed, to sustain life and normality in growth and development for the baby. Even though your baby has gone for years without exhibiting any symptoms, it does not mean that this disorder has gone away. Treatment is also administered to reduce the risk of developing symptoms and further complications associated with MCAD deficiency.