What is Metabolic Disorders
What is Metabolic Disorders

What is Metabolic Disorders?

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What is Metabolic Disorders?

What is Metabolic Disorders? Metabolic disorders are genetic conditions (congenital) characterized by abnormalities in metabolic processes in the human body due to hormone deficiency or enzymes.

Metabolism itself is a series of chemical reactions needed by the body to maintain the life cycle, including in the process of formation and use of energy. Some examples of metabolic processes are:

  • The process of converting unused nitrogen to waste in the urine.
  • The process of breaking or converting chemicals into other useful substances and channeling them into the cells of the body.
  • The process of breaking carbohydrates, proteins, and fats in food to produce energy.

As mentioned earlier, the metabolic disorder is either genetic or inherited from the parent. A person suffering from metabolic disorders has two abnormal genes, one from the father and one from the mother. Some metabolic disorders can be diagnosed by routine screening tests performed at the newborn.
There are hundreds of types of metabolic disorders that have been identified. Some of the more common types of metabolic disorders are:

  • Galactosemia. Babies experience jaundice, vomiting, and liver enlargement early in breastfeeding as the body is unable to break down the galactose sugar well.
  • Mitochondrial abnormalities. Mitochondria are energy machines in the cells of the human body. Disorders inside the mitochondria can cause muscle damage.
  • Disruption of lysosomes storage. Various enzyme abnormalities in the lysosome can result in accumulation of toxic substances and cause some metabolic disorders such as Hurler’s syndrome, Fabry’s disease, and Gaucher’s disease.
  • Disturbance of glycogen storage. Disorders of glycogen storage can trigger low blood sugar, muscle pain, and weakness of the body.
  • Friedreich’s Ataxia Disease. Disorders associated with this protein frataksin can cause nerve damage that causes people unable to walk, as well as impaired heart function.
  • Phenylketonuria (PKU). PAH enzyme deficiency leads to high levels of phenylalanine in the blood, so that it can cause patients experiencing mental retardation.
  • Maple Syrup Urine Disease. BCKD enzyme deficiency can cause the buildup of amino acids in the body. This results in damage to the nerves and urine of scented patients such as syrup.
  • Metabolic disorders substances.Proteins in charge of controlling metal substances in the body such as iron and copper are disturbed, so the substances are accumulated in the liver, pancreas, intestines, and brain.
  • Peroxisome Disorder. Peroxisomes are part of a cell that is rich in enzymes and serves to regulate the disposal of toxic substances in the body. Disorders of this enzyme function can cause several disorders such as Zellweger syndrome and Adrenoleukodistrofia.

Symptoms of metabolic disorders

Symptoms felt by people with metabolic disorders vary depending on the type of metabolic disorder that diidapnya. Some common symptoms of metabolic disorders are:

  • Abdominal pain.
  • Fatigue and lethargy.
  • Weight loss.
  • Gag.
  • Low appetite.
  • Not normally the smell of sweat, saliva, urine or breath.
  • Late physical development.
  • Failure to increase weight or grow.
  • Jaundice.
  • Convulsions.
  • Coma.

These symptoms may appear suddenly or slowly. Symptoms can also arise from food, drugs, dehydration, or other factors.

Causes of Metabolic Disorders

Metabolic disorders are commonly caused by a genetic disorder inherited by a parent or from several generations before. This genetic disorder causes the body to become impaired in producing enzymes, so that the amount of certain enzymes becomes less or even not produced at all.

The loss or destruction of any of these enzymes can disrupt a series of chemical processes that occur in the body, so toxic substances fail to be removed from the body and accumulate in the bloodstream. This condition is called metabolic disorders

Diagnosis of Metabolic Disorders

Metabolic disorders usually have appeared since the baby was just born, so it can be diagnosed by performing routine screening tests. If metabolic disorders fail to be detected at birth, it usually will not be diagnosed until the patient feels the symptoms for the first time.

When patients have complained of symptoms, DNA testing can be done by doctors to diagnose most metabolic disorders.

Treatment Metabolic disorders

Metabolic disorders can only be dealt with in a limited way, as most of the species can not be cured.
Some common principles that are usually followed in the treatment of metabolic disorders are:

  • Reduce or eliminate the intake of food or drugs that can not be processed body normally.
  • Removing toxic substances that fail to excrete by the body.
  • Replace enzymes or other chemicals that are lost or inactive, so the metabolism can be close to normal.

While the treatment measures may include:

  • Consume enzyme replacement supplements that can help the metabolism process.
  • Eliminate harmful metabolic substances from the blood by using certain chemicals.
  • A special diet that eliminates some types of nutrients that can not be absorbed properly by the body

Patients with metabolic disorders with severe symptom severity usually should be treated in hospital. In addition, patients will also need life support tools. In such cases, emergency treatment and repair of organ function will be the primary focus of the physician.

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