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What is an Enzyme Deficiency?

Mary McMahon
By
Updated Mar 03, 2024
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An enzyme deficiency is genetic condition characterized by inability to produce an enzyme or underproduction of that enzyme, leading to health problems caused by problems with the metabolism. Some examples of deficiencies include phenylketonuria, acute intermittent porphyria, alkaptonuria, and Lesch-Nyhan syndrome. These conditions are part of a larger family of diseases classified as inborn errors of metabolism. Such conditions may be inherited from one or both parents, or the result of spontaneous mutations.

Enzymes are specialized proteins built in the body to accomplish a variety of tasks. In the metabolism, enzymes help the body break down, transport, and transform food products people ingest. They are found in the digestive tract, liver, kidneys, and other structures of the body and are involved at every level, from cellular metabolism to the gross breakdown of chemical compounds processed in the liver.

In a person with an enzyme deficiency, not enough of an enzyme is produced by the body. This is usually because of a genetic error where the code for producing the enzyme is not present or is distorted in some way. Symptoms of a deficiency can appear very shortly after birth, as it may lead to a variety of health problems. Patients may experience buildups of toxins in the body, declines in organ function, and other issues. Testing can reveal the presence of a compound that would be broken down by enzymes in healthy patients and doctors can also check for particular genetic markers indicative of a deficiency.

Treating patients with enzyme deficiencies is challenging. Their bodies cannot be stimulated into producing the enzyme because they lack the genetic material to do so. One option can be supplementation, in some cases, where an artificial source of the enzyme is introduced. In other instances, modifications may need to be made to the diet to avoid foods that require those enzymes to metabolize safely. Doctors can also manage symptoms like vision problems or organ failure.

The severity of an enzyme deficiency is variable, depending on the enzyme involved. In some cases, lacking key enzymes can be fatal. Other patients may experience a shortened lifespan and significant health problems as a result of not having the enzymes they need to successfully metabolize various foods. In conditions like so-called “fish odor syndrome,” the enzyme deficiency is primarily an inconvenience and is not considered life threatening or particularly dangerous to the patient's health, although it may cause discomfort.

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Mary McMahon
By Mary McMahon

Ever since she began contributing to the site several years ago, Mary has embraced the exciting challenge of being a The Health Board researcher and writer. Mary has a liberal arts degree from Goddard College and spends her free time reading, cooking, and exploring the great outdoors.

Discussion Comments
By Comparables — On Sep 26, 2011

@ValleyFiah- It is important to replenish probiotic organisms in the body after a taking an antibiotic regimen because they are immune boosters that help to protect your body from harmful biotic materials. Probiotics however can be different from an enzyme.

Probiotics contain certain enzymes that aid in the breakdown of harmful cells and organisms, but they are also made of proteins. Many of the body's digestive enzymes break down proteins to be delivered to other parts of the body where they can be reconstructed into different enzymes. Enzymes however, are very specific in what they break down, so digestive enzymes will not be able to break down all types of probiotics. This is the reason that some probiotics are ingested on an empty stomach while others are ingested with a meal.

If you do not replenish the probiotics and the enzymes they hold within them, you are more likely to become sick after taking an antibiotic regimen. Probiotics can also help prevent things like antibiotic related diarrhea and can buffer against digestive related illnesses.

So to answer your question, probiotic organisms both contain enzymes and are proteins. They should be taken regularly, and you should consume foods that contain things like inulin that promote healthy probiotic growth.

By ValleyFiah — On Sep 25, 2011

Someone told me that it is important to replenish liver and digestive enzymes after taking an antibiotic. Is this true? Why is it true? And, how do I go about replenishing enzymes after taking an antibiotic?

By GlassAxe — On Sep 25, 2011

@Georgesplane- The treatments for enzyme deficiencies can be difficult to treat because it is often a genetic problem that causes an enzyme deficiency. Some enzyme deficiencies can be a little easier to treat by simply supplementing with enzymes in food.

Enzyme deficiencies like lactose intolerance can be solved by ingesting a drop of lactase before eating a product with lactose in it. Other digestive enzyme deficiencies can also be solved by taking things like probiotics or digestive enzymes to aid in the breakdown of ingested complex molecules.

The trouble in fixing some enzyme deficiencies is that the enzymes are produced in cells that are not easily accessed through the digestive tract. Enzymes are produced through amino acids provided by meats and vegetables.

Diet if so important to enzyme deficiencies because we get the proteins through food, but it is also why it can be difficult to solve enzyme deficiencies in other parts of the body. An enzyme deficienciy is a result of the body not being able to construct a certain enzyme out of the various amino acids that enter the body through the digestive tract. You cannot easily deliver complete enzymes to other parts of the body without the digestive system trying to break them down first.

By cougars — On Sep 24, 2011

@Georgesplane- The easiest way to think of an enzyme is as a catalyst for a chemical reaction. An enzyme is a chain of amino acids (proteins) that fold into unique shapes so that they only react with certain molecules. These unique shapes make the enzyme and its molecules fit together like pieces of a jigsaw puzzle, giving enzymes a very specific function in a cells biochemical reactions.

A good example to use is the maltese enzyme. Maltose, a type of sugar molecule, fits perfectly into a maltese enzyme. The area where the enzyme and maltose molecule meets is called the active point because this is where an enzyme becomes a catalyst. The enzyme forces the chemical reaction of one maltose molecule into two glucose molecules (cellular energy in the body) at a rate of about 1000 times per second. If this catalyst, the enzyme, were not present, than the body would transform maltose to glucose very slowly, thus affecting body metabolism.

This catalysis of molecular particles through enzymatic functions is also the root cause of other enzyme diseases like glycogen storage diseases. In these types of diseases, a problem with the production of enzymes that transform glucose to glycogen exists (an important molecule for muscle growth and development).

By Georgesplane — On Sep 24, 2011

What exactly are enzymes and how do they work? I would like to learn more about enzymes and enzyme deficiency diseases. Are enzymes cells, molecules, atoms, or something else entirely. How many types of enzymes are there? Are there any treatments for enzyme deficiencies, or are they diseases that people manage over a course of a lifetime?

Mary McMahon
Mary McMahon

Ever since she began contributing to the site several years ago, Mary has embraced the exciting challenge of being a...

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