8 Mysterious Metabolic Disorders That Could Be Affecting Your Health

Our body is a storehouse of immense energy produced through various chemical reactions, and this is what metabolism is!

The intake of food is followed by the breakdown of all the carbohydrates, proteins, and fats in food to release energy for our use and convert nitrogen to waste given out in urine.

You can think of metabolism as an organized but chaotic queue with enzymes and proteins standing in a row to make all the necessary chemical reactions happen. But what happens if something is wrong? Well, “Metabolic Disorder,” they say!

These metabolic disorders can be either inherited or not. In inherited metabolic disorders, some genes encoding a specific enzyme are missing or not working properly, which causes some toxic substances to accumulate in your body.

A gene mutation preserved through generations can cause a genetic metabolic disorder—that’s what we call Bad Luck.

Let’s take a look at the most common metabolic disorders!

1. Sickle cell anemia

This metabolic disease is common among African Americans. It is inherited and marked by a condition of not having enough healthy red blood cells to carry adequate oxygen throughout the body.

This leads to a deficiency of oxygenated cells in your body. Red blood cells are normally round and can easily move through your blood vessels.

However, in this specific metabolic disorder, red blood cells become very rigid and sticky, and they can get stuck in blood vessels.

This disorder is called metabolic disorder because it is caused by a defect in the gene that orders the body to form hemoglobin, which gives red color to blood. In this disease, the abnormal hemoglobin causes red blood cells to become rigid.

The sickle cell anemia-causing gene is inherited through generations, following a pattern of inheritance called autosomal recessive inheritance. This means that both the mother and the father must pass on the defective form of the gene to cause disease in their child.

2. Cystic fibrosis

This metabolic disorder is most common in people of European heritage. It is basically a progressive genetic disease that leads to prolonged lung infections and causes difficulty in breathing with time.

In people suffering from this disease, a defective gene leads to a buildup of mucus in various body organs, such as the lungs and pancreas.

This mucus can even clog the airways and trap bacteria, leading to infection. In extreme conditions, extensive lung damage and respiratory failure can also result.

3. Maple syrup urine disease

This disease is especially common in Mennonite communities. In this disease, the body is unable to break down different parts of proteins.

Quite interestingly, the urine of people with this condition can smell like maple syrup, which is why the disease is named like that.

Caused by a defect in one of three genes, people suffering from this metabolic condition cannot break down the amino acids leucine, isoleucine, and valine. Brain damage may be caused in the future.

In Maple syrup urine disease, the metabolism of certain amino acids is disrupted, causing rapid neuronal degeneration.

It can be fatal if left untreated within the first few months after birth. However, it can be treated, especially by limiting the dietary intake of branched-chain amino acids.

4. Gaucher’s disease

Commonly occurring among Jewish people from Eastern Europe, this condition causes an inability to break down a particular kind of fat, leading to its accumulation in the liver, spleen, and bone marrow.

This disease can result in bone damage and even death. It is normally treated with enzyme replacement therapy.

It is regarded as the most common lysosomal storage disorder, caused by a deficiency of the enzyme cerebrosidase, needed to break down cerebroside, a component of the cell membrane in blood cells and neurons.

5. Diabetes

Being one of the most common metabolic diseases, diabetes affects almost 8% of the US population. It is basically of two types. In type 1 diabetes, the T cells attack and kill beta cells in the pancreas.

The beta cells are responsible for producing insulin. Lack of insulin thus causes serious nerve damage, eyesight impairment, kidney damage, and increased risk of heart disease.

6. Phenylketonuria

An indeed very common disorder of amino acid metabolism, Phenylketonuria is a paradigm for effective newborn screening.

This disease is caused by a genetic defect in the phenylalanine hydroxylase enzyme, which is the basis for classical phenylketonuria.

It can even result in severe mental retardation. This disorder can be, however, detected by screening newborn blood spots.

7. Hyperlipidemia and Hypercholesterolemia

If the regulation or utilization of lipoproteins is disturbed, the dietary fibers that are distributed throughout the body will also be affected.

It can result in a condition called hyperlipidemia or hypercholesterolemia. These disorders are even associated with cardiovascular disease.

Modification of the diet and administration of certain drugs which inhibit fatty acid synthesis can treat these disorders.

8. Galactosemia

A very common disorder of carbohydrate metabolism is galactosemia, which is caused by the inability to form glucose from galactose, a sugar found in milk.

Galactosemia is important because newborn screening has been very successful, and simple diet alteration has allowed the affected individuals to survive.

Treatment approaches for metabolic disorders can vary from modifying the diet to limiting the amount of a precursor that is not metabolized properly, from using detoxifying agents to provide alternative pathways for the removal of toxic intermediates to enzyme replacement, and from organ transplantation to successful gene therapy or a simple replacement of the defective gene.

Gene therapy is expected to become the most important approach. It offers unlimited potential for definitive treatment and is being actively investigated as a treatment for virtually all the commonly occurring metabolic disorders around the world.

Until now, most of the genes for the enzymes involved in metabolic diseases have been identified and cloned, which is remarkable.

Genetic approaches have been used to produce mass quantities of enzymes for enzyme replacement. Indeed, there is still a lot of untapped potential in genetic engineering for curing metabolic diseases.