Metabolic Disorders: Definition, Types, Causes, Symptoms, Diagnosis, and Treatments

Metabolic disorders are abnormalities in the body’s metabolic processes. Metabolism is the process of breaking down nutrients from food into energy needed by the body.

When a person experiences a metabolic disorder, the metabolic processes in the body are disrupted, so that the production of energy needed to carry out various body functions is also disrupted.

Nutrients that are a source of energy or calories are carbohydrates or sugars, proteins, and fats. So, metabolic disorders are all diseases that cause disturbances in the metabolism of carbohydrates, proteins, and fats.

One of the most well-known examples of metabolic disease is diabetes.

Types of Metabolic Disorders

There are hundreds of types of metabolic disorders, which are divided into 3 major groups, namely:

Carbohydrate metabolism disorders

Some examples of diseases that fall into the group of disorders of carbohydrate or sugar metabolism are:

  • Diabetes
    Diabetes causes blood sugar levels to increase.
  • Galactosemia
    Galactosemia is a metabolic disorder that causes the body to be unable to properly break down the sugar type galactose. Galactose is a type of sugar found in milk.
  • McArdle syndrome
    A disorder in which the body is unable to break down glycogen. Glycogen is a form of sugar that is stored in all body tissues, especially muscles and liver.

Protein metabolism disorders

Some types of diseases that are included in the group of protein metabolism disorders are:

  • Phenylketonuria
    Phenylketonuria occurs when the level of the amino acid (protein) phenylalanine in the blood is too high.
  • Maple syrup urine disease (MSUD)
    Maple syrup urine disease occurs when the body is unable to absorb amino acids.
  • Alkaptonuria
    Alkaptonuria occurs when the body is not able to properly break down the amino acids tyrosine and phenylalanine, so the sufferer’s urine turns brownish black when exposed to air.
  • Friedreich’s ataxia
    Friedreich’s ataxia occurs when a protein of the type frataxin in the body is reduced and triggers damage to the nerves that control the ability to walk and the work of the heart.

Fat metabolism disorders

Diseases belonging to the group of disorders of fat metabolism include:

  • Gaucher
    disease Gaucher disease is a disease that makes the body unable to break down fat, so fat accumulates in the liver, spleen, and bone marrow. This disorder will trigger bone damage.
  • Tay-Sachs disease Tay-Sachs
    disease results in the accumulation of fat in the brain.
  • Xanthoma
    Skin disorders that arise due to the accumulation of fat under the surface of the skin.

Causes of Metabolic Disorders

Metabolic disorders are most often caused by genetic disorders that run in families. This genetic disorder affects the performance of the endocrine glands in producing enzymes that are used in metabolic processes. As a result, the amount of enzyme produced will be reduced or even not produced at all.

Loss or damage to digestive enzymes also causes toxic substances in the body to not be excreted and accumulate in the bloodstream. This condition can affect the function of organs in the body.

Symptoms of Metabolic Disorders

Symptoms of metabolic disorders vary, depending on the type of disorder that occurs. However, there are some common symptoms of metabolic disorders, namely:

  • Body feels weak
  • Nausea and vomiting
  • No appetite
  • Stomach ache
  • Bad breath, sweat, saliva and urine urine
  • Yellow eyes and skin
  • Late physical development
  • Seizure

These symptoms can appear suddenly (acute), or slowly and prolonged (chronic). For some cases, symptoms of metabolic disorders can appear several weeks after the baby is born. In other cases, symptoms can take years to develop.

In addition to the above symptoms, symptoms of metabolic disorders in children can be seen from stunted physical growth and children are not able to do various things that should have been able to be done by children his age.

When to go to the doctor

Immediately consult a doctor if symptoms of the metabolic disorders mentioned above appear. Also discuss with your doctor before you plan to have children, if any of your family members suffer from metabolic disorders.

Every parent is recommended to regularly check the condition of their baby or child to the pediatrician. This is important to monitor the growth and development of the child, as well as to detect early if there are abnormalities that may be experienced by your child. The examination can be done in conjunction with the child’s immunization schedule.

Immediately consult a pediatrician or pediatrician who specializes in nutrition and metabolic disease if you feel there is something different or wrong with your baby or child. The doctor will perform an examination to find out the cause of the disorder.

If you or your child is experiencing symptoms of metabolic disorders or has been diagnosed with this disease, do regular check-ups to the doctor and undergo painstaking treatment. Treatment given for this condition can be long-term.

Diagnosis of Metabolic Disorders

Some congenital metabolic disorders, such as phenylketonuria, can be detected through routine examinations during pregnancy. These abnormalities can be confirmed by examination of amniocentesis or amniotic fluid collection for examination in the laboratory.

In addition to amniocentesis, placental tissue sampling can also be done by obstetricians to determine the type of disease suffered by the baby in the womb.

For some conditions, new metabolic disorders can be detected after birth, in childhood, or even as adults. Doctors can suspect someone has a metabolic disorder through symptoms, physical examination, and investigations, such as blood or urine tests. For example, people with diabetes have high levels of sugar in their blood.

Metabolic Disorder Treatment

Treatment of metabolic disorders aims to control and relieve symptoms that arise, as well as prevent complications. The treatment given depends on the type of disease and the severity of the metabolic disorder experienced by the patient.

To relieve symptoms and prevent complications of metabolic disorders, the endocrinologist will perform treatment in the form of:

  • Diet and special diet according to the disease experienced by the patient, for example by avoiding or limiting the intake of certain nutrients.
  • Enzyme replacement drugs or supplements that can help the metabolic process.
  • Drugs to remove toxic substances that settle in the body, due to metabolic disorders.

Some cases of metabolic disorders, both in children and adults, require intensive care. If the metabolic disorder has caused damage to the body’s organs, the doctor may suggest an organ transplant.

Because most metabolic disorders are congenital disorders, the treatment given can not cure this disease, but only to control the disease and suppress symptoms.

Prevention of Metabolic Disorders

Metabolic disorders or diseases are difficult to prevent because they are often hereditary. Talking to your obstetrician and geneticist before planning a pregnancy is the best prevention if you have a family history of metabolic disease.

In this discussion, ask about your chances of having a child with the same disease and how to prevent or minimize the risk.

One of the well-known metabolic disorders caused by an unhealthy lifestyle is type 2 diabetes. Prevention can be done by living a healthy lifestyle, namely:

  • Maintain ideal body weight.
  • Eat a balanced diet and increase the consumption of fibrous foods, such as vegetables, whole grains, and fruit.
  • Doing exercise regularly, at least 30 minutes per day.
  • Reduce consumption of beverages with high sugar content, such as packaged fruit juices or sodas, and foods high in sugar and fat.

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