Introduction:
Trifunctional protein deficiency is a type of fatty acid oxidation disorder in which some people have problems breaking down fat into energy that the body needs to function. It is a genetic (inherited) condition that affects a group of enzymes (proteins that help to fasten metabolism and chemical reactions in the body) that process certain types of fat called long-chain fatty acids. And these enzymes help in breaking down the fatty acids to either get rid of them or use them for various bodily processes.
With trifunctional enzyme deficiency, the body faces trouble using fats for energy, and when fats are not processed, waste will build up in the body, including toxins. These toxins can further cause damage to the heart, liver, and muscles. And in severe conditions, it can cause coma or death.
What Is Trifunctional Enzyme Deficiency?
Trifunctional enzyme deficiency or trifunctional protein deficiency (TFP) is a rare condition that causes improper oxidation or breakdown of fats. Breaking down fats is a necessary function of the body to work correctly. And this is very important during illness or after a long time without food, such as fasting.
The early detection of this condition is necessary to prevent any severe outcomes. There are three forms of trifunctional enzyme deficiency - early, childhood, and mild.
Early trifunctional enzyme deficiency is seen in babies up to two years of age, childhood trifunctional enzyme deficiency occurs after infancy or early childhood, and mild trifunctional enzyme deficiency is a very uncommon type, which could appear between two years of age and adulthood.
What Are Fatty Acid Oxidation Disorders?
Fatty acid oxidation is breaking down fats in the body by various enzymes. Fatty acid oxidation disorders (FAODs) are a group of rare inherited conditions caused by the improper functioning of the trifunctional enzymes responsible for breaking fats in the body. People with fatty acid oxidation disorders cannot break down fat from the food they eat and the fat stored in the body. The symptoms and treatment plans for fatty acid oxidation disorders vary from person to person. And these disorders are not gender-specific and affect both males and females.
Trifunctional enzyme deficiency is also known as -
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TFP.
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Mitochondrial trifunctional protein deficiency.
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MTP deficiency.
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TFP deficiency.
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TPA deficiency.
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Type 2 trifunctional protein deficiency.
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Trifunctional protein deficiency.
What Is the Cause of Trifunctional Enzyme Deficiency?
Trifunctional enzyme deficiency is a rare inherited disease caused by genetic changes. In this, the genes HADHA or HADHB get affected. The body produces a complex enzyme mitochondrial trifunctional protein, in response to the signal given by this gene. And this enzyme helps break down certain types of fat called long-chain fatty acids. This fat is an essential energy source for the heart, liver, and muscles. So, without this HADHA or HADHB gene, mitochondrial trifunctional protein deficiency occurs, and the body cannot break down fat to make energy and get rid of toxins.
What Are the Signs and Symptoms of Trifunctional Enzyme Deficiency?
The signs and symptoms for three different forms of trifunctional enzyme deficiency include -
Early Trifunctional Enzyme Deficiency -
Early trifunctional enzyme deficiency symptoms start anywhere from birth to age two. The most common symptoms are -
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Sluggishness.
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Extreme sleepiness.
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Muscle weakness.
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Absent reflexes.
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No response to pain.
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Delays in walking and learning.
Other uncommon symptoms include -
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Serious heart problems.
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Accumulation of fat in the liver and other liver problems.
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Breathing problems.
Babies with early trifunctional enzyme deficiency who are not treated usually die of heart or breathing problems by three years of age.
Childhood Trifunctional Enzyme Deficiency -
In this condition, episodes of hypoglycemia (a condition in which blood sugar level is lower than the standard range) and metabolic crisis (a severe form of health condition leading to a build-up of toxic substances in the blood and low blood sugar) are generally seen. And the multiple episodes may cause brain damage resulting in intellectual disabilities and learning problems.
Mild or Muscle Trifunctional Enzyme Deficiency -
The mild type of trifunctional enzyme deficiency occurs only in a few people. The symptoms can start appearing from age two to adulthood. Muscle weakness is a common sign of this type, and the breakdown of muscle fibers can also occur, which usually happens -
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After strenuous exercise or exertion.
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During illness or infection.
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After not having food for an extended period.
Signs of muscle breakdown include -
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Muscle aches.
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Cramps.
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Weakness.
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Reddish-brown color to the urine.
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Breathing problems.
How to Diagnose Trifunctional Enzyme Deficiency?
Most trifunctional enzyme deficiency cases are diagnosed in the first three to four days of life. First, doctors will screen the blood of the baby, and after diagnosis, babies are referred to a specialist. And then, enzyme activity testing of skin cells or white blood cells are done.
Trifunctional enzyme deficiency diagnosis can also be made during pregnancy by taking the amniotic fluid and measuring the enzyme levels. This test can also be used to detect gene defects in the fetus.
Genetic testing can also check the exact gene mutations that lead to fatty acid oxidation disorders. By genetic testing, the mutation of the specific gene within the family of the patient can be pointed out. After the diagnosis, all the siblings of the first identified patient in the family are also tested for trifunctional enzyme deficiency. Also, the family history should be taken into account whether any child has died in the past due to an unidentified trifunctional enzyme deficiency.
What Is the Treatment of Trifunctional Enzyme Deficiency?
The treatment plan should be followed after consulting the health care provider. The primary goal of the treatment is to prevent other health problems caused by this condition.
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Avoid Going a Long Time Without Food - Infants and young children affected with trifunctional enzyme deficiency should have to eat frequently to prevent hypoglycemia or metabolic crisis. And the parents should consult a dietician or metabolic doctor to create a diet chart. Generally, infants are advised to be fed every four to six hours, and feeding the kids at night is essential. And they have to be woken if they do not wake up on their own in the morning.
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Diet - A diet with low fats and high carbohydrates is recommended. Carbohydrates such as bread, pasta, fruits, and vegetables provide various types of sugar to the body that can be used for multiple functions. Protein food such as meat and low-fat dairy products can also be given.
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Medium-Chain Triglyceride Oil (MCT Oil) - Medium-chain triglyceride oil (MCT oil) is also used as a food as it contains medium-chain fatty acids that are easy to break down and can be used in small amounts to provide energy to the body. And only the prescribed quantity of the oil should be consumed by the patient and should not be changed without consulting the doctor.
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L-Carnitine - This is another substance that can be used by the body to create energy by breaking fats. It is a safe and natural product that also helps in getting rid of harmful waste.
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Avoid Heavy Exercise - The long-duration workouts can be harmful in patients with trifunctional enzyme deficiency. The exercises can cause muscle aches, cramps, and weakness. This can also lead to the breakdown of muscle fibers.
Conclusion:
Trifunctional enzyme deficiency is an uncommon condition, but it involves severe complications. The only way to avoid this condition is the early diagnosis, as any delay can turn out to be fatal. Therefore, the parents going through pregnancy should go for regular check-ups, and complete family history should be given to the doctor to make him aware of the situation. And after diagnosis, proper treatment protocols should be followed to avoid complications.
