Amino Acids Deficiency: Causes, Symptoms, and Disorders

AminoAcidProducts | November 27, 2019 | Health

Amino acid deficiency is caused by a lack of amino acids in the body. These amino acids are an essential component which the body uses to perform several integral functions. There are about twenty-two amino acids and each of these amino acids plays a specific role in the body. Some of these amino acids are produced within our body but there are others known as essential amino acids that our body cannot produce. We get these essential amino acids from food sources. This is one of the reasons why we are encouraged to eat a balanced diet.

Amino Acids Deficiency

When we eat protein-rich food, our digestive system acts on this protein, breaking it down to become amino acids. Our body then acts on these amino acids, combining them in different ways to perform various bodily functions. If these amino acids are absent then these functions can not be carried out thus leading to deficiencies. There are several symptoms that are associated with each unique deficiency and the accompanying disorders. We will be looking at them here.

Metabolic Disorders

The most common cause of amino acid deficiency is metabolic disorders. Our body undergoes a metabolic process by breaking down food into different nutrients and disperses it via the blood to the places where they are needed. The body of a person who has a metabolic disorder will not be able to carry out this process. There are people whose bodies are not able to process carbohydrates, some cannot process fats, proteins, vitamins or any of the classes of food.

Our focus here is on the metabolic disorder that comes from the body’s inability to break down protein into amino acid thus leading to a deficiency or lack of amino acids. This condition is known as amino acid metabolism disorders. There are different types of this disorder, it includes; maple syrup urine disease, phenylketonuria (PKU), methylmalonic aciduria, and Homocystinuria.

1. Maple syrup disease

This disorder is inherited. It is caused by the body’s inability to properly process amino acids. The name of this condition is gotten from the sweet odor of an infant’s urine, which is an infant who is affected with this condition. The symptoms of this disorder include poor feeding, abnormal movements, vomiting, delayed development, and lethargy.

If this condition is left untreated it can result in coma, seizures, and death. This disease is usually classified by the pattern of symptoms and signs noticed. The most severe and common form of maple syrup urine disease becomes obvious immediately after childbirth. It is known as the classic type. There are other types that are obvious during childhood or late infancy. These types are usually milder but still result in health issues and delayed development if left untreated.

2. Phenylketonuria

This is usually referred to as PKU. It is also an inherited condition. It causes the blood level of phenylalanine to increase. Phenylalanine is an amino acid obtained from our diet, it is an essential amino acid. If this condition is left untreated, the level of phenylalanine will increase to an extent where it becomes harmful to the body. This can lead to critical health problems such as intellectual disability.

The symptoms of phenylketonuria differ based on the intensity of the condition. Classic PKU is the most severe type of this condition. Infants who suffer from this condition do not show signs instantly until a few months later. If these children are not treated they will develop a lifelong intellectual disability. Other common symptoms include delayed development, seizures, psychiatric disorders, and behavioral problems.

The skin and hair of the affected children take on a lighter tone than the other members of the family who are unaffected. They might also develop eczema and skin disorders. The variant type of this condition has a lesser risk of developing brain damage and the milder form of phenylketonuria may not need treatment. Women suffering from PKU are at high risk of losing their pregnancy.

3. Methylmalonic acidemia

This amino acid deficiency is an inherited condition caused by the body’s inability to break down proteins. This leads to a build-up of methylmalonic acid. It is a rare condition and is usually diagnosed during the first twelve months of life. A child gets this condition by inheriting a defective gene from both mother and father.

Most of the time the newborn dies even before the condition is diagnosed. There are several symptoms of this condition which usually comes up as soon as the baby begins to consume food that contains proteins. This worsens the condition and can result in stroke and seizure. Some of the other symptoms include progressive encephalopathy, delayed development, lethargy, vomiting, seizures, yeast infections, actions, and dehydration.

The intensity of these symptoms can be reduced by eating food low in protein. The patients should avoid being around people with an infectious illness such as flu and cold. The diet of the child must be closely monitored and there are different supplements that can be taken, these supplements should contain carnitine and cobalamin.

4. Homocystinuria

This is caused by the absence of an amino acid called methionine in the body leading to the buildup of homocysteine. Normally homocystinuria is found in small quantities in the urine and blood but people with this condition have an elevated level.

The symptoms of this deficiency develop within the first few months of life. These symptoms include seizures, megaloblastic anemia, stunted growth, intellectual disability, movement problem, slender build, pale skin and hair, irregularly shaped chest, blood, clots, and weak bones.

This condition is caused by the mutation of certain genes and thus it can be passed down from parent to child. It is inherited. A treatment plan can be administered by the doctor but the child would generally have to stop eating food that has high protein content.

We have seen that most of these deficiencies are inherited. This is why expecting parents are usually advised to undergo a series of tests in order to ascertain if their unborn children are at risk of any amino acid deficiency.

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