Be careful, Enzyme Deficiency Can Trigger This Disease

Enzyme is a type of protein in cells that has 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 illnesses. Enzymes play an important role in metabolic processes. Metabolism includes chemical reactions that occur in the body to produce energy, including breaking down fats, carbohydrates, and proteins. When the production or function of the enzyme is disrupted, the metabolic processes in the body are disrupted.

Various diseases due to enzyme deficiency

Metabolic disorders due to deficiency of various types of enzymes, one of which is metabolic disorders that are hereditary. Patients with this disorder generally experience symptoms in the form of decreased appetite, vomiting, jaundice (jaundice), weight loss, abdominal pain, fatigue, late growth, seizures, to coma. Symptoms of metabolic disorders due to enzyme deficiency, can appear gradually or suddenly, which is 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 genetic (genetic) enzymes, along with disorders and diseases that may occur:

• Fabry disease

This condition is caused by a lack of the 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 the accumulation of amino acids and causes nerve and urine damage that resembles the aroma of syrup.

• Phenylketonuria

This condition occurs due to deficiency of the PAH enzyme, which causes high levels of phenylalanine in the blood. Phenylketonuria can cause sufferers to experience mental retardation.

• Nimann-Pick disease

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

• Hurler's Syndrome

Like Nimann-Pick's disease, Hurler's syndrome is also caused by an enzyme deficiency in 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.

Overcoming Diseases Due to Enzyme Deficiency

Basically, the disease due to a deficiency of hereditary enzymes cannot be cured. Handling efforts undertaken are more aimed at overcoming metabolic disorders that occur, namely by:

• Replacing inactive or missing enzymes to help normalize metabolism.
• Reducing consumption of food and medicines that cannot be digested properly.
• Detoxification of blood to eliminate the buildup of toxic materials due to metabolic disorders.

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