Metabolic Disorder

Metabolic Disorder

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

When a person experiences metabolic disorders, the metabolic processes in the body are disrupted. As a result, 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 three major groups, namely:

Disorders of carbohydrate metabolism

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 This syndrome causes the body to be unable to break down glycogen. Glycogen is a form of sugar that is stored in all body tissues, especially muscles and liver.

Disorders of protein metabolism

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

  • Phenylketonuria
    Phenylketonuria occurs when blood levels of the amino acid (protein) phenylalanine are 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 unable to properly break down the amino acids tyrosine and phenylalanine so that the sufferer's urine is brownish black when exposed to air.

  • Friedreich's ataxia Friedreich's ataxia occurs when the frataxin type protein in the body decreases and triggers damage to the nerves that control the ability to walk and work of the heart.

Disorders of fat metabolism

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

  • Gaucher
    disease Gaucher disease causes the body to be unable to break down fat so it accumulates in the liver, spleen and bone marrow. This disorder can trigger bone damage.
  • Tay-Sachs
    disease Tay-Sachs disease results in the accumulation of fat in the brain.
  • Xanthoma
    Disorders of the skin that arise due to the accumulation of fat under the surface of the skin.

Causes of Metabolic Disorders

Metabolic disorders are generally 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.

These conditions make 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 be unable to 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 occurring. However, there are some common symptoms of metabolic disorders, namely:

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

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

In addition to the symptoms above, symptoms of metabolic disorders in children can be seen from their stunted physical growth. Children with metabolic disorders are also unable to do things that children of their age should be able to do.

When to go to the doctor

Check with your doctor if you experience symptoms of metabolic disorders as mentioned above. Also discuss with your doctor before you plan to have children, if any of your family members suffer from metabolic disorders.

Check the condition of the baby or child to the pediatrician regularly. This is important to monitor growth and development, as well as early detection if there are abnormalities that he may experience. 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 in your baby or child. The doctor will run an examination to find out the cause of the disorder.

If you or your child has symptoms of a metabolic disorder or is diagnosed with this disease, do regular check-ups with your doctor and take painstaking treatment. Treatment given for this condition can be long-term.

Diagnosis of Metabolic Disorders

Several inherited metabolic disorders, such as phenylketonuria, can already be detected through routine checks during pregnancy. These abnormalities can be confirmed through an amniocentesis examination or taking amniotic fluid for examination in the laboratory.

Apart from amniocentesis, the obstetrician can also take samples of the placenta tissue to find out the type of disease suffered by the fetus.

In some conditions, new metabolic disorders can be detected after birth, as children, or even as adults. The diagnosis process will begin with questions and answers related to symptoms, followed by a physical examination and supporting examinations, such as blood or urine tests.

For example, the doctor will perform a blood test to detect high levels of sugar in the blood in diabetics.

Metabolic Disorder Treatment

Treatment of metabolic disorders aims to control and relieve symptoms, as well as prevent complications. The method used depends on the type of disease and the severity of the patient.

To relieve symptoms and prevent complications of metabolic disorders, endocrinologists will treat:

  • Special diet and 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, to help the metabolic process
  • Drugs to remove toxic substances that settle in the body due to metabolic disorders.

Several cases of metabolic disorders, both in children and adults, require intensive care. If the patient's organs have suffered serious damage, the doctor may suggest organ transplants.

Because most metabolic disorders are congenital disorders , the treatment given cannot 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 caused by heredity. Talking to your obstetrician and geneticist before planning a pregnancy is the best preventive measure you can take if you have a family history of metabolic disease.

Through discussion, the doctor can tell you how likely it is to have 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 efforts can be done by living a healthy lifestyle, namely:

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