Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency restricts your body from converting fat into energy during fasting. It gives rise to certain difficulties due to which your quality of life gets reduced. This condition sometimes gets triggered by fasting and viral infections and thus, you need to take proper care ensuring that you lead a better way of life.
How Many People Have MCAD Deficiency?
In the US, all newborns are screened for MCAD deficiency ensuring that they get a better life in the future. The experts there are carrying out a detailed research understanding the disease that helps the victims to get rid of all the worries. It helps in coming with advancements in treatments and thus they can now lead a life free from any difficulties.
In the United States, MCAD deficiency disease affects approximately 1 in 17,000 people and thus it is important to know the symptoms that help you to avoid this condition:
- Vomiting with a feeling of weakness
- Lethargy and inability to focus on works
- Low blood sugar or hypoglycemia
- Autosomal recessive inheritance
- Cerebral edema or swelling of the brain
- Reduced plasma carnitine
Usually, these symptoms appear during infancy or early childhood; however, in rare cases symptoms also come up during adulthood.
Causes of MCAD Deficiency
Here are mentioned the causes of MCAD deficiency knowing, which you can get the proper treatment enjoying in your way:
The primary cause is the abnormal mutation of the ACADM gene. This is the enzyme, which gives your body the instructions to produce enzyme medium-chain acyl-CoA dehydrogenase, which helps your body in breaking down fatty acids. These are found in certain foods and body tissues and are the good source of energy for liver, muscles and heart. Now, mutations lead to low level of this enzyme and thus a person suffers from MCAD deficiency.
This disease is hereditary and usually inherits one gene from each parent in an autosomal recessive way. A person with MCAD deficiency has a mutation in both cells giving rise to responsible genes in each cell. Usually careers of this disease don’t show any symptoms and thus remain unaffected. However, when there are two parents as a career the child gets affected. There is a 25% chance where the child gets the disease, 50% chance of the child becoming unaffected career and 5% chance of becoming a normal person who’s not even a career.
First, the doctor diagnoses the symptoms and accordingly comes out with good treatments for helping the patient to feel confident.
The patient may need some initial testing like:
- Urine organic acid
- Urine acylglycine
- Urine organic acid
Apart from these, one may need molecular genetic testing or biochemical genetic testing. The doctor starts treatment according to the reports obtained and thus the patient gets well soon regain self-confidence. First, it is good to a detailed consultation with the healthcare professional that helps you to understand how the disease is being treatment. Accordingly, you can begin the healing process that gives you the true happiness knowing that the victim can perform well in life.
Finding a Specialist in the US
Nowadays, you can easily find a specialist in the US and thus it’s easy to avail treatments making life easier. In this regards, you can search the doctors’ lists at different clinics and you can find a reputed doctor who takes care of patients with MCAD deficiency.
Also, there are support and advocacy groups who help you to get connected with other patients, families and doctors ensuring that you can now stay away from all confusions. You can easily visit the group’s website finding necessary information that aids you to get familiar with all positive aspects. Even you can directly speak to them that come out as a better way to learn how they work and how you can be benefited. Hence, you a good support that gives you the ultimate serenity knowing that you can manage the MCAD deficiency symptoms restoring the normal lifestyle.