Introduction
Enzymes are the proteins that aid in speeding up chemical reactions in the body. Enzymes are essential for digestion, liver function, and many other functions. Enzymatic defects are disorders and deficiency (or functional abnormalities) of any of these enzymes result in enzymatic disorders. For instance, infants undergo a few tests to check for enzyme defects, such as phenylketonuria (PKU) and galactosemia.
What Are Enzymes?
Enzymes are proteins that aid in speeding up metabolism or the chemical reactions in the body. They aim to build some substances and break down others. All living organisms have enzymes and they are produced naturally by the body. Few enzymes are also seen in manufactured items and food. One of the most important functions of enzymes is to help in digestion. Food is converted into energy by the process of digestion. For instance, there are enzymes present in the saliva, pancreas, intestines, and stomach. They break down fats, proteins, and carbohydrates, these are mainly used nutrients for development and cell repair. Enzymes also help in:
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Breathing.
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Building muscle.
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Nerve function.
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Getting the body rid of toxins.
What Are the Enzymatic Defects?
Enzymatic defects, or the absence of enzymes, are inherited defects that result in several life-changing or life-threatening conditions:
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MPS (mucopolysaccharidoses): Mucopolysaccharidoses are acquired diseases having an abnormal or missing enzyme that leads to the accumulation of complex sugar molecules in cells. As a result, the damage is caused to the heart, bones, joints, respiratory system, and central nervous system. Because the disease may not be highlighted at birth, signs, and symptoms are seen with age as more cells become destructed.
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LSD (Lysosomal storage disorder): Lysosomal storage disorders are a group of approximately fifty inherited disorders that are seen when a missing enzyme results in the inability of the body to recycle cellular waste. The extent of the disease depends on the type and amount of cellular debris that deposits, but almost all disorders are progressive. Many of these children cannot survive much and die at a very early stage or in childhood. Affected individuals generally have intellectual and developmental disabilities, cloudy corneas, short stature, stiff joints, incontinence, speech and hearing impairment, chronic runny nose, hernia, heart disease, hyperactivity, depression, pain, and a dramatically shortened life span.
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NP (Niemann-Pick Disease): A group of inherited metabolic disorders known as lipid storage disorders. Patients with this type of disorder have an insufficient enzyme which is important for the metabolism of fatty substances in the body known as lipids. Due to this, adverse quantities of lipids deposit in the spleen, liver, lungs, bone marrow, and brain. Symptoms of this disease might include lack of muscle coordination, brain degeneration, learning problems, loss of muscle tone, increased sensitivity to touch, spasticity, feeding and swallowing issues, slurred speech, and an enlarged liver and spleen. The most common type, Type A, is seen in infants. Children with this type of disease can hardly live for more than 18 months. Type B disease has an enlarged liver and spleen, generally seen in the pre-teen years, but the brain remains unaffected. Types C and D can be seen early in life or develop in the teenage. In such people there may be moderate enlargement seen of the spleen and liver, but brain harm might be more and result in the inability to see up and down, problems in walking and swallowing food, and loss of vision and difficulty in hearing.
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Fabry Disease: It resists the body from making enzymes (alpha-galactosidase A) that break down fat (lipids).
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Krabbe Disease (Globoid Cell Leukodystrophy): It affects the enzymes required for the protective covering (myelin) on the cells of the nerve (central nervous system).
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Maple Syrup Urine Disease: It affects enzymes needed to break down specific branch chain amino acids. Some other health problems related to enzyme imbalances are:
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Crohn’s Disease: It is an imbalance of the bacteria in the gut (gut microbiome) that might influence an autoimmune response of the intestinal tract. This might play a vital role in the presentation and severity of Crohn’s disease.
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Exocrine Pancreatic insufficiency (EPI): This is a condition where the pancreas does not have enough digestive enzymes, so the body is unable to break down food or absorb nutrients from it. Chronic pancreatitis, pancreatic cancer, diabetes, or cystic fibrosis are the contributing factors to EPI.
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Lactose Intolerance: In this condition, there is insufficient enzyme present to digest sugars in milk (lactose) and dairy.
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Pyruvate kinase deficiency (PKD): It is a less frequent acquired disorder identified by the early destruction of red blood cells, which is known as hemolytic anemia. Anemia is caused when the levels of red blood cells in the blood become less and hemolytic (or hemolysis) means that the red blood cells break down prematurely. Red blood cells are formed in the bone marrow and are released into the bloodstream. Red blood cells depend on this energy process, so pyruvate kinase deficiency leads to a lack of energy and premature red cell destruction (hemolysis). Instead of a lifespan of 120 days, red cells with pyruvate kinase deficiency die within a few days to weeks.
How Are Enzymatic Defects Diagnosed?
Doctors can use a variety of enzyme and protein blood tests to check for specific health conditions. For instance, elevated liver enzymes might be a sign of liver disease. It is mostly done using blood tests.
How Are Enzymatic Defects Treated?
The best treatment for enzyme deficiency is enzyme replacement therapy (ERT). The enzymes are replaced in patients who have adverse conditions resulting from enzyme deficiencies or dysfunction. The usual method of ERT is through IV (intravenous) infusions, in which the enzyme are replaced and administered directly into the bloodstream through a slow drip of fluids. Replacement enzymes for ERT are taken from human, animal, and plant cells that are then genetically changed and processed before being given to the patient. By getting these enzyme replacements, the body is capable of successfully doing the functions inhibited by the deficiency. The effectiveness of ERT differs from person to person and what is being treated, but in a few cases, it is the only available option available.
Conclusion
Enzymatic defects are disorders caused due to a deficiency of an enzyme. These defects can result in certain severe conditions such as Fabry disease, Krabbes disease, pyruvate kinase deficiency, mucopolysaccharidoses, etc. It can be diagnosed by a blood test. The most effective way to treat enzymatic defects is enzyme replacement therapy (ERT).
