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Enzyme deficiency: causes, clinical manifestations, and treatment

Last reviewed: April 21, 2010 ~4 min read

Enzyme deficiency cause ailments or discomfort in the people suffering from them. These can range from mild discomforts, birth defects, genetic disorders, and in worse cases can be lethal. Deficiencies can be from proteases, lipases, amylase, cellulase, and other protein enzyme deficiencies. Cystic fibrous is an example of what can occur from an enzyme deficiency. The ethnicity of an individual can also determine the probability that an enzyme deficiency can occur.

Enzymes usually are found as proteins in the body and determine the reactions going on within our metabolism and the functions that allow our bodies to undergo the processes that are needed to for cell development. The enzymes produced in the cell decide which pathways occur in the cell. They are selective and each on has a specific purpose and job to do. Deficiencies in enzymes cause the cells and other proteins not to function properly and this causes problems within the body. Some enzymes are needed to breakdown proteins in the body for use as energy or to for use as carriers.

Enzyme deficiencies lead to abnormalities that can cause pain, discomfort, disease, and even death. Protease deficiencies create alkaline deficiencies in the blood leading to diseases. Enzymes.com (2010) in the web article, "Enzyme Deficiencies" reports, "Overly alkaline people have a multitude of calcium metabolism problems, such as osteoarthritis, osteoporosis, gouty arthritis, degenerative disc problems, bone spurs and related disorders such as sciatica and ligament problems." Since water follows protein, the lack of water in blood along with alkalinity causes the homeostasis of the body to be off. This causes serious problems for the body.

Amylase digests white blood cells that have died and breaks down carbohydrates. Enzyme.com states, "When you are low in amylase you are a candidate for abscesses (areas with pus but not bacteria). If you have a toothache and are being treated with antibiotics, but it doesn't go away, chances are you may have an abscess." They are involved in anti-inflammatory since they are released by histamine.

Lipases digest fat and fat soluble vitamins. Enzyme.com reports, "Lipase deficient people have decreased cell permeability, meaning nutrients cannot get in and the waste cannot get out of the cell. For example, diabetics are lipase deficient and cannot get glucose into their cells, and wastes or unwanted substances cannot get out." Heart disease can come from this.

Cellulase deficiency can lead to sugar or gluten intolerance. Enzyme.com writes, "Cellulase deficiency is a malabsorption syndrome (impaired absorption of nutrients, vitamins, or minerals from the diet by the lining of the small intestine) with its many symptoms of lower abdominal gas, pain, bloating and problems associated with the jejunum and pancreas as well as nervous system conditions such as Bell's Palsy, Tic and facial neuralgia."

Ethnicity can be related to deficiencies of the body. Emedicine.medscape.com (2010) reports, "Congenital sucrase-isomaltase deficiency is most common in Canadian Eskimos and natives of Greenland. They cannot breakdown sucrose and maltose leading to intestinal discomfort. Deficiency of trehalose, a sugar found almost exclusively in mushrooms, is rare, except in natives of Greenland. It also cause intestinal discomfort. Adult-onset lactase deficiency is most common in persons of Asian, African, and Mediterranean descent." This causes intolerance to milk products and causes intestinal discomfort. There are numerous deficiencies that effect different races and also different geographical regions.

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PaperDue. (2010). Enzyme deficiency: causes, clinical manifestations, and treatment. PaperDue. https://www.paperdue.com/essay/enzyme-deficiency-cause-ailments-or-2035

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