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Enzyme deficiencies can trigger this disease

Enzymes are one type of protein in cells that have an important role for the body. There are various types of enzymes for different functions. Lack of production of an enzyme can cause metabolic disorders that lead to serious diseases.

Enzymes play an important role in the metabolic process. Metabolism includes chemical reactions that occur in the body to produce energy, including the breakdown of fats, carbohydrates, and proteins. When the production or function of the enzyme is disrupted, the metabolic process in the body is disturbed.

The Purpose of Having Enzymes in the Body

Enzymes convert the nutrients we digest into vital parts for regenerating blood, nerves, organs and tissues. Of the three enzyme groups, two are digestive enzymes and one is considered a metabolic enzyme. The structure of the metabolic enzyme is the basic element of nutrition that the body uses to carry out most of its vital functions.

Metabolic enzymes are responsible for the formation and development of hormones, this enzyme is also the only enzyme that helps the body maintain its health condition. This enzyme also increases the body's resistance to disease and maintains the body's vitality as you get older.

The other two enzyme groups are digestive enzymes. Food enzymes begin the digestive process for the first time when pure digestive enzymes begin the process of breaking nutrients into particles that are small enough to be used by all tissues and organs in the body. At this point, metabolic enzymes become active in the process of preparing these nutrients in nerves, organs, tissues and blood.

Various Diseases Due to Enzyme Deficiency

Metabolic disorders due to various types of enzyme deficiencies, one of which is a metabolic disorder that is hereditary. Patients with this disorder generally experience symptoms of decreased appetite, vomiting, jaundice, reduced weight, abdominal pain, fatigue, late growth, convulsions, and coma.

Symptoms of metabolic disorders due to lack of enzymes can occur gradually or suddenly, triggered by various factors. For example, because of the influence of drugs and food. Here are some types of metabolic diseases due to lack of enzymes that are hereditary (genetic), along with disorders and diseases that may occur:

Nimann-Pick Disease

This disease is caused by a disruption of lysosomal storage (a room in a cell that functions to remove metabolic waste). The effect is nerve damage, difficulty eating and enlargement of liver organs in infants.

Hurler syndrome

Just like Nimann-Pick disease, Hurler's syndrome is also caused by a lack of enzymes in the lysosomes. This condition can cause growth retardation and abnormal bone structure.

Tay-Sachs disease

Similar to the two previous diseases, this condition is triggered by an enzyme deficiency in lysosomes. Tay-Sachs disease causes nerve damage in infants, and usually can only survive up to 4-5 years of age.

Fabry's disease

This condition is caused by a lack of enzyme ceramide trihexosidase or alpha-galactosidase-A. The effect can cause heart and kidney disorders.

Maple syrup urine disease

This type of enzyme deficiency triggers accumulation of amino acids and causes nerve damage and urine water that resembles syrup scent.


This condition occurs due to PAH enzyme deficiency, which causes high levels of phenylalanine in the blood. Phenylketonuria can cause the sufferer to be mentally retarded.

Overcoming Disease Due to Enzyme Deficiency

Basically, a disease caused by a lack of hereditary enzymes cannot be cured. Handling efforts are carried out more aimed at overcoming the metabolic disorders that occur, namely by:

  • Replacing an inactive or missing enzyme to help normalize metabolism.
  • Reduce consumption of foods and medicines that cannot be digested properly.
  • Blood detoxification to eliminate toxic buildup due to metabolic disorders.

Although rare, metabolic disorders due to hereditary diseases can limit the sufferer to carry out daily activities. If the condition is serious enough, the patient may need treatment in the hospital due to certain emergency conditions. Consult your doctor if you find any symptoms of enzyme deficiency as mentioned above, so that you can check and treat before the condition worsens.

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Is a health and wellness enthusiast. In him free time, she loves to travel and taste different types of teas.

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