Metabolic disorders: what it is, their characteristics and the most common types

The body performs multiple chemical reactions that make up the metabolism. Without them, we would not be able to obtain energy or simple molecules from food, and therefore our body would not be able to perform its vital functions.

However, there are cases where due to genetic error, the substances responsible for the breakdown of complex molecules, enzymes, are not produced correctly, leading to multiple metabolic problems.

The body produces around 75,000 enzymes, and if none are present at the proper levels, a metabolic disorder can occur. Then we will see what are the metabolic disorders and which are the most frequent.

    What is a metabolic disorder?

    The human body and that of other living things are containers of metabolic reactions, which allows us to compare life forms with factories of chemical reactions. Metabolism includes any chemical reaction that takes place in the body of a living being, whether it is to replicate DNA, to break down fats, carbohydrates and proteins, to repair tissue, to produce melanin …

    The different compounds necessary for our body to function are obtained by thousands of metabolic pathways. that occur inside cells. These chemical reactions are due to the action of molecules of proteins, enzymes, of which our organism has many different, more than 75,000. There is practically an enzyme for each substance that we introduce into our body and each one of them. specializes in a phase of a metabolic pathway.

    Sometimes, and due to genetic errors, an enzyme cannot be synthesized or made incorrectly, preventing the metabolic pathway it was supposed to participate in from completing properly. This leads to problems, either in the form of an accumulation of substances not degrading properly, or, on the contrary, that there is too much enzyme for a substance and it is present at very high levels. weak. Whatever the specific situation, it causes metabolic disturbances.

    Metabolic disorders are pathologies that occur when there is an error in a sequence of genes, which makes the correct synthesis of an enzyme impossible and therefore the degrading substance is present in harmful amounts for the organism, either by excess or by shortage. This enzymatic defect causes complications for the whole organism, of varying severity depending on the metabolic pathway affected and whether the enzyme involved is fundamental or not for the life of the affected person.

    Because there are so many enzymes in our body, there are hundreds of different metabolic disorders and naturally their prognosis varies between them. Some may involve simple temporary discomfort, others may require constant clinical admission and careful monitoring, and in some cases may even be fatal. Because its cause is usually a genetic error, metabolic disorders can rarely be cured. However, by following a healthy lifestyle and avoiding exposure to certain substances, the prognosis can become very favorable.

    While most metabolic disorders are rare when viewed individually, the truth is that around 40% of the population suffers from a medical problem linked to poor synthesis of an enzyme or poor metabolism of a substance. That is, the group of metabolic disorders is relatively common, although it is true that there are extremely rare and potentially fatal metabolic diseases.

      The most common metabolic disorders

      As we have seen, a metabolic disorder develops when, due to a genetic error, there are problems in the synthesis of one or more enzymes. Depending on the alteration in the production of the enzyme involved, the metabolic pathway it affects and the stage of the alteration, one pathology or another will occur. Some of the most common metabolic disorders include:

      1. Obesity

      From a medical point of view, obesity is a complex disease. This medical condition has a multicomponent origin and is influenced by both genetics and the environment, and in recent decades has become a veritable pandemic in many countries. Some consider it the pandemic of the 21st century, as nearly 650 million people worldwide are obese and 1.9 billion are overweight.

      While obesity should be diagnosed with a body mass index (BMI) greater than 30, the truth is that what most identifies a person with this disease is excess fat. This is important because there are people with a BMI over 30 who do not have fat accumulation, as is the case with bodybuilders, and therefore do not have obesity.

      Obesity affects the body in several ways. While being thin doesn’t mean being healthy, being obese is a confirmation that you are not at all healthy. Having excess body fat is associated with a huge increase in the risk of cardiovascular disease, diabetes, cancer, bone disease, and even mood and learning disorders.

      It may come as a surprise, but the causes of obesity remain unclear. While one of the most obvious causes seems to be overeating, the truth is that many experts say it is still not clear whether this is the real reason or rather a consequence. That is to say, he would first be obese and then he would need to eat in large quantities.

      Obesity is considered a metabolic disorder as it seems it is associated with problems in the metabolic pathways of assimilation of certain nutrients. A genetic component has been observed in the development of this disease, which means that it is true that some people can be predisposed to obesity if the family has a history of this disease.

      However, that there is a genetic predisposition to obesity does not mean that things cannot be done to lose body fat and improve health. Various environmental factors such as hours of sleep, exercise and diet influence this predisposition. Therefore, whatever its real cause, the best way to treat it is to initiate lifestyle changes, improve your diet, and even go to psychotherapy when faced with the possibility of an EDS disorder. power supply (TCA).

        2. Diabetes

        Diabetes is an endocrine and metabolic disease which can be of four types:

        • Prediabetes: almost diabetes, curable.
        • Gestational diabetes: Temporary diabetes associated with pregnancy.
        • Type 1 or juvenile diabetes: genetic
        • Type 2 or acquired diabetes: caused by excess weight or poor eating habits.

        Diabetes is a metabolic disorder because there are defects in the synthesis or action of insulin, the hormone responsible for regulating blood sugar. Due to this problem of insulin production, glucose cannot be metabolized properly and circulates freely in the blood causing serious damage to the body.

        Some symptoms of diabetes are weight loss, weakness and fatigue, blurred vision, and the appearance of sores. In the long term, this disease can lead to even more serious complications such as cardiovascular disease, kidney damage, mood disorders such as depression, and even death.

        Prediabetes and gestational diabetes are curable, but the other two are not. Type 1 and 2 diabetes are chronic diseases that require lifelong treatment, as normal glucose metabolism cannot be restored and insulin injections must be received. To make sure that their health does not deteriorate, people with diabetes should constantly monitor their blood sugar.

          3. Phenylacetonuria

          Phenylketonuria is an inherited metabolic disease in which, due to genetic failure, its presenter does not have the enzyme responsible for breaking down phenylalanine, a very common amino acid found in high protein foods. Patients with phenylketonuria, when they introduce phenylalanine into their body, cannot cope with it and eventually build up.

          This disease causes very fair skin and blue eyes because the pigment of melanin cannot be synthesized if the phenylalanine is not broken down. The build-up of phenylalanine damages the central nervous system, leading to intellectual disability. Other problems associated with Phenylketonuria are the strange odors on the skin, bad breath and smelly urine, delays in body development, behavior problems, microcephaly, rashes and, of course, neurological disorders.

          The only way to avoid the symptoms of phenylketonuria is lead an extremely low protein diet for life. Foods as common as meat, milk, eggs, legumes and fish are full of phenylalanine and that is why patients with phenylketonuria cannot eat them.

            4. Lactose intolerance

            Lactose intolerance is an extremely common metabolic disorder around the world (75% of the world population), although in Europe it is relatively rare, especially in the Nordic countries, Britain and north-central Europe, with less than 15% of the population with this problem.

            Those who suffer from it have problems synthesizing lactase, an enzyme produced in the small intestine that breaks down lactose, substance present in animal milk derivatives. Lactase converts lactose, a substance that cannot be assimilated by the body, into glucose and galactose, which they are.

            Lactose intolerance is varied and some cases are more serious than others. Depending on how lactase production is affected, more or less severe symptoms will appear after consuming lactose products, including gas, bloating, diarrhea, vomiting …

            There is no cure for this disorder because there is no known way to increase lactase synthesis. Yes, there are drugs that help pair, but not everyone works. The best way to avoid the symptoms of lactose intolerance is to reduce the intake of dairy products and get calcium from other foods such as broccoli, soy drinks, oranges, salmon, spinach …

            5. Hypercholesterolemia

            Hypercholesterolemia is a metabolic disorder in which, due to genetic factors combined with an unhealthy lifestyle, LDL (low density lipoprotein) levels in the blood are higher than normal, while HDL (high density lipoproteins, “good cholesterol”), below.

            The most common hypercholesterolemia is familial, associated with an inherited genetic predisposition, although with a healthy lifestyle can be avoided. More than 700 possible genetic mutations have been found that could lead to its occurrence, which would explain why it is so common.

            The main problem with this disorder is that it doesn’t show its existence until too late, when cholesterol has already built up in the blood vessels and blocked them, causing vascular problems such as heart attacks or strokes. It is for this reason that it is so important that, if there is a known family history, frequent blood tests are performed.

            6. Hyperlipidemia

            Hyperlipidemia is a metabolic disorder in which an increase in triglycerides and cholesterol is given. It is usually due to an inherited genetic disorder, although it must be said that other factors such as poor diet, alcoholism and being overweight can make this medical condition worse.

            The best way to avoid suffering from severe symptoms of hyperlipidemia is reduce the consumption of meat (especially red), fatty dairy products, industrial pastries and any other food with a high fat contentbecause they will not be able to metabolize well and will accumulate in the blood.

            Symptoms associated with this medical condition include chest pain at an early age, leg cramps, and loss of balance. People with hyperlipidemia have an increased risk of myocardial infarction and stroke, among other vascular problems.

            7. Porphyria

            Porphyria is a disorder in which an accumulation of porphyrins occurs due to problems in the metabolism of these substances. Porphyrins are essential for iron binding and oxygen transport to hemoglobin but that, when they cannot be broken down or synthesized more than necessary, it can result in an accumulation of these in the blood, which causes several problems.

            This metabolic disease is inherited and can manifest itself in a number of ways. Sometimes it only causes skin problems, while other times it can cause nerve damage, causing breathing difficulties, abdominal pain, chest pain, high blood pressure, seizures, muscle pain, anxiety and even death.

            There is no cure for porphyria and treatment is limited to relieving symptoms when attacks of the disease occur. Attacks of porphyria can be more or less prevented by leading a healthy lifestyle, reducing stress, avoiding sun exposure, not drinking alcohol or smoking, and not spending too much time without food.

              8. Wilson’s disease

              Wilson’s disease is an inherited metabolic disorder in which there are problems metabolizing copper, a metal that accumulates in the liver, brain and other vital organs. Copper is obtained through food and is essential for keeping our nerves, skin and bones healthy, but it must also be properly eliminated.

              This metal can accumulate when problems arise in the synthesis of bile enzymes responsible for its elimination. If this situation occurs, it can lead to problems such as liver failure, blood disorders, neurological diseases, and psychological problems.

              Although there is no cure for Wilson’s disease, it is there are pharmacological treatments that help to fix copper so that the organs expel it into the bloodstream and thus be excreted in the urine. Thanks to the medication, people with this disease can lead normal lives although they should avoid foods rich in copper such as seafood, nuts, chocolate or liver.

              9. Atherosclerosis

              Atherosclerosis is a metabolic disease the cause of which is genetic in origin and in which alterations in fat metabolism occur. In patients with this disease, fat accumulates in the walls of the blood vessels, causing plaque to form and hardening of the arteries, which become stiffer and narrower.

              The hardening and narrowing of the arteries affects the blood flow, which becomes slower as it has difficulty moving through the circulatory system. There comes a time when the fatty patches are so dense that directly the flow is blocked and, depending on the area affected, can lead to death.

              Atherosclerosis is the main cause of arterial insufficiency which in turn can cause vascular diseases such as myocardial infarction, stroke, heart failure, arrhythmias …

              As a disease of genetic origin, atherosclerosis has no cure, but lifestyle changes and pharmacological treatments may improve the prognosis. If necessary, the surgery also improves the patient’s quality of life.

              10. Tay-Sachs disease

              Tay-Sachs disease is an inherited metabolic disorder in which, due to failures in lipid metabolism, the enzyme that degrades them is not available. As a result, which occurs with only 3 months of life, fat accumulates in the baby’s brain.

              Fats have a toxic effect on the central nervous system, which is particularly sensitive during childhood due to its development. The accumulation of fat in this system damages neurons, leading to problems with muscle control, seizures, weakness and, in the long run, blindness, paralysis and death.

              For this medical condition to occur, they must have inherited two damaged genes from both parents, since it is an autosomal recessive disease, it is considered a very rare disorder. It is not treated, and the treatments currently available are only palliative, which is why if it is known that there is a family history of people who have suffered from this disease, a genetic analysis should be done to see s ‘there are. probability of having a child with this disease.

              Bibliographical references

              • Álvarez Gasca, Maria Araceli, Hernández Pozo, Maria del Rocío, Jiménez Martínez, Marcela, & Durán Díaz, Ángel. (2014). Lifestyle and Metabolic Syndrome in Students: Gender Differences. Journal of Psychology (PUCP), 32 (1), 121-138. Retrieved November 29, 2021, from
              • Barajas, F., Orozco, L. (2014) “Genomics of metabolic diseases”. UNAM University digital magazine.
              • García Ribes, A., Martínez González, MJ, García Cazorla, A. (2008) “Metabolic diseases of onset in adulthood”. Annals of the Navarra Health System.
              • Ramos Boluda, E. (2005) “Dietary treatment of metabolic diseases”. Therapeutic information from the national health system.
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