Enzyme deficiency
Enzyme Deficiency
Enzyme deficiency (pronunciation: /ˈɛnzaɪm dɪˈfɪʃənsi/) is a medical condition that occurs when the body does not produce enough of a specific enzyme to carry out necessary biochemical reactions.
Etymology
The term "enzyme deficiency" is derived from the Greek words "en" meaning "in", "zyme" meaning "leaven", and the Latin word "deficientia" meaning "lacking". This term was first used in the late 19th century to describe conditions where the body lacked certain enzymes necessary for normal metabolic function.
Causes
Enzyme deficiencies are often caused by genetic mutations that affect the production or function of specific enzymes. These mutations can be inherited from parents or can occur spontaneously. Some enzyme deficiencies are also caused by environmental factors, such as poor nutrition or exposure to toxins.
Symptoms
The symptoms of enzyme deficiency can vary widely depending on the specific enzyme involved and the severity of the deficiency. Common symptoms can include fatigue, digestive problems, skin conditions, and in severe cases, developmental delays or organ failure.
Diagnosis
Diagnosis of enzyme deficiency typically involves blood tests to measure the levels of specific enzymes in the body. In some cases, genetic testing may also be used to identify mutations that cause enzyme deficiencies.
Treatment
Treatment for enzyme deficiency typically involves managing symptoms and preventing complications. This can include dietary changes, medication, and in some cases, enzyme replacement therapy.
Related Terms
External links
- Medical encyclopedia article on Enzyme deficiency
- Wikipedia's article - Enzyme deficiency
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