Medium chain acyl-CoA dehydrogenase (deficiency) is one of the most common forms of metabolic disorders that affect infants and young children. Nevertheless, it is a rare condition which is common in 1 out of 5,000-12,000 births. It is a disorder whereby the gene associated with breaking down fats is either absent or isn’t working properly. MCAD deficiency is inherited as an autosomal recessive disorder with a 25% chance of a child inheriting the defective gene from both carrier parents and 50% chance of inheriting the defective gene from one carrier parent, thus becoming a carrier. There is also a 25% chance that the offspring will not inherit the defective gene. However, it can be managed with dietary changes and supplementation of carnitine as well as frequent doctor visits in case of any complications.
Can You Be Cured Of MCAD Deficiency?
MCAD deficiency in newborns can be identified through a screening test, which is a blood test carried out after birth. There is no known cure for MCAD deficiency; however, your child can live long with minimal or no complications at all. This can be achieved by ensuring that your baby does not go for long hours without feeding. Also, if your child falls ill, you should treat it as an emergency and take him/her to your caregiver without delay. Individuals with MCAD disorder are usually prone to life-threatening complications, which can easily arise if treatment is not administered immediately.
During times of ailment, you can give your child high energy drinks, to prevent symptoms of this deficiency as well as the resulting metabolic crisis. For children eating, ensure you feed them on a low-fat, high-carbohydrate diet, so that there are enough sugars to be broken down and provide the energy required by the body. Carnitine supplements can also be administered in order to provide the body muscles with energy. They also help remove any harmful substances, which have collected in the bloodstream as a result of the failure of oxidation of fats.
What Are The Symptoms Of MCAD Deficiency?
Children or adults with MCAD deficiency lack the necessary enzyme to convert fats into energy. At birth, an infant with MCAD deficiency shows no symptoms of the condition until the second or third month. In cases of mild MCAD disorder, an individual will not exhibit symptoms until they’ve reached adulthood when the condition is diagnosed. Symptoms of MCAD deficiency are usually triggered by long periods of fasting. Nonetheless, symptoms can also arise in situations where one is seriously ill, for example from a common cold or other infections. The symptoms of MCAD deficiency are:
- Weakness and tiredness
- Lack of energy and fatigue
- The feeling of being sick
- Vomiting
- Low blood sugar (hypoglycemia)
- Drowsiness and sleeping for long periods
- Fever
- Mood and behavior changes
If the condition worsens, then one may exhibit symptoms such as:
- Seizures
- Breathing difficulties
- Hypoketotic hypoglycemia which is low blood sugar level as a result of an inadequate breakdown of fats
- Liver problems such as an enlarged liver
- Brain damage which may result in aphasia (inability to understand or use language)
- Coma
- Sudden death
Factors To Be Considered For An MCAD Deficiency Treatment Plan
Your primary caregiver should consult a dietician or metabolic doctor so as to create a treatment plan that will help them cope with MCAD deficiency. The major factors considered are the frequency of feeding, ideal diet or rather foods to eat, what to do in case your baby is not feeding properly especially when they are sick and how to manage any complications that may arise. Children with MCAD disorder will need extra care. Therefore, it is important that you follow your doctor’s advice and if the need arises, take your kid to the doctor to prevent irreversible health damage.
Conclusion
You cannot be cured of MCAD deficiency, but that does not mark the end of the road. As a matter of fact, you can lead a normal healthy life, without having any complications provided you follow the advised care plan. The prognosis of MCAD deficiency is good if diagnosed and treated early enough, i.e. during childhood. However, if the disorder is not diagnosed until adulthood, the prognosis cannot be as promising as to when it is diagnosed early. Since this deficiency is a life-long condition, one will have to ensure they take treatment for the rest of their lives, so as to improve life quality.
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