Learn about MCAD deficiency with your doctor

MCAD deficiency is a relatively rare and uncommon disease in Vietnam. According to data in the US, the rate of children with MCAD deficiency at birth is 1 in 8,500 cases. The most affected subjects are infants or children at a young age. Therefore, to protect children's health, understanding the causes, ways to recognize and treat MCAD deficiency is essential. Let's learn about this condition with the doctors SignsSymptomsList through the article below.

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• Overview of MCAD . Deficiency
• Is MCAD deficiency dangerous?
• Diagnosis of MCAD . deficiency
• What treatments are available?

Overview of MCAD . Deficiency

MCAD (medium-chain acyl-CoA dehydrogenase) deficiency is an inherited disorder that prevents the body from converting certain types of fat into energy. This phenomenon usually occurs during the fasting phase, when you are not taking food. At that time, blood sugar levels will drop to alarming levels and cause many serious complications.

Manifestations of MCAD deficiency usually appear at birth and persist throughout life. If not treated properly, the disease can leave many dangerous complications.

Currently, hospitals in Vietnam have begun to screen newborn babies to detect many rare diseases early with no symptoms. MCAD deficiency is one of the disorders of interest. This is an important step in reducing the risk of future harm.

Symptoms of MCAD deficiency usually appear at birth

Causes of MCAD . deficiency

MCAD deficiency occurs mainly due to mutations in the ACADM gene. This gene directs the body to produce the medium-chain acyl-CoA dehydrogenase enzyme. This is an enzyme that plays a role in breaking down fatty acids, specifically medium-chain fatty acids. Fatty acids are concentrated in food and adipose tissue, forming an energy source for the heart, muscles or liver.

The ACADM gene mutation causes the body to lack the enzyme to break down medium fatty acids. Therefore, tissues and organs will not be supplied with enough energy, so they cannot function properly.

This condition is often hereditary. If one parent carries only one mutated gene, they will not have clinical symptoms. But a child who will inherit two copies of the abnormal gene will show signs of the disease at birth. Therefore, if one of the parents has an abnormal gene, the chances of the child carrying the disease are very high.

Clinical symptoms

Most cases of MCAD deficiency are recognized fairly early. But some children will not show unusual symptoms until adulthood.

Symptoms of the disease mainly stem from low blood sugar, including:

• Vomiting.
• Always tired, lack of energy, difficult to exercise for a long time.
• Convulsions, fainting, or coma may occur.
• The liver is larger than normal.
• Muscle pain or weakness.

Hypoglycemia is a concern in people with MCAD disorders. Patients should pay attention to the following factors to avoid exacerbation of the disease:

• Fasting for long periods of time or following an inappropriate diet.
• Not eating enough carbs.
• Have an infection or other underlying illness.
• Recurrent fever.
• Vomiting or diarrhea.
• Excessive exercise.
• Vaccinate.
• Severe stress, unstable mental state.

Occasionally, patients may experience hypoglycemia without any specific symptoms. Therefore, if you are diagnosed with MCAD enzyme deficiency, you should pay attention to monitor your blood sugar regularly.

Children with MCAD deficiency often experience vomiting

Is MCAD deficiency dangerous?

People with MCAD deficiency may experience complications such as:

• Convulsion.
• Shortness of breath.
• Liver or brain damage.
• Breathing problems.
• Fainting or deep coma.

However, the most dangerous effect of MCAD deficiency is death. Therefore, screening children for diseases right from birth is extremely necessary to prevent complications. With early treatment, children can still lead healthy lives.

Diagnosis of MCAD . deficiency

To diagnose MCAD deficiency , infants will undergo the following genetic tests:

• Newborn screening: some babies have genetic disorders but no signs of disease. Screening will help identify abnormalities in your baby. If your child has an unsatisfactory screening result, the doctor will run other tests.
• Gene testing: helps to identify the mutated gene that causes MCAD deficiency. The medical staff will take a sample of blood, skin, or tissue for analysis. For more accurate results, doctors often recommend that the family get tested for the mutated gene.
• Blood tests for acylcarnitines. High levels of acylcarnitines are indicative of an MCAD enzyme disorder.

At the same time, the doctor will ask about the child's unusual manifestations. Fasting hypoglycemia is an indicator of MCAD deficiency.

What treatments are available?

The goal of treatment for MCAD deficiency is to reduce the severity of complications. Children with the disease need a diet full of nutrients, especially starch, to maintain blood sugar levels. Parents should consult with a nutritionist to develop an appropriate eating plan for their child's condition.

The interval between meals will vary by age. For infants, in the first 4 months of life, the break should not last more than 4 hours. For older children, this period can be extended to 12 hours. However, medical experts recommend that you should not fast for more than 12 hours.

To prevent hypoglycemia, parents should keep the following tips in mind:

• Avoid fasting for too long.
• Try to provide enough carbs in your daily meals so you don't lose energy. The foods the patient should consider such as black bread, rice, cereals, noodles, etc.
• Choose foods that are high in starch but low in fat.
• Add starch if the patient is sick, stressed or increased exercise intensity.

Children with MCAD deficiency should add starch in their diet

How to deal with low blood sugar

Your doctor may recommend carnitine supplements to help with fat metabolism. However, you should know how to handle when the body shows signs of low blood sugar.

• Suck on candy, sweets, or drink soft drinks.
• Contact your healthcare provider if you have diarrhea or vomiting. If your condition is critical, you will be given intravenous glucose.

MCAD deficiency is a rare disease that can have many unfortunate consequences. Therefore, parents should let their children participate in newborn screening programs to detect genetic disorders early. Early medical diagnosis and treatment can help your child lead a healthy and stable life.