Enzyme deficiencies are genetic conditions that result in the body’s inability to produce or underproduce enzymes, causing health problems related to metabolism. Inborn errors of metabolism, such as phenylketonuria, acute intermittent porphyria, alkaptonuria, and Lesch-Nyhan syndrome, are examples of these conditions. Treatment includes enzyme supplementation and dietary changes, and symptoms can range from mild discomfort to life-threatening conditions.
An enzyme deficiency is a genetic condition characterized by the 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. These conditions can be inherited from one or both parents or the result of spontaneous mutations.
Enzymes are specialized proteins built in the body to perform a variety of tasks. In metabolism, enzymes help the body break down, transport and process the foodstuffs that people ingest. They are found in the digestive tract, liver, kidneys and other body structures 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, the body doesn’t make enough of the enzyme. This is usually due to a genetic error where the code for making the enzyme is either missing or distorted in some way. Symptoms of a deficiency can show up soon after birth, as they can lead to a variety of health problems. Patients may experience buildups of toxins in the body, declines in organ function, and other problems. Tests 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.
Treatment of patients with enzyme deficiencies is challenging. Their bodies cannot be stimulated to produce the enzyme because they lack the genetic material to do so. One option may be supplementation, in some cases where an artificial source of the enzyme is introduced. In other cases, dietary changes may need to be made to avoid foods that require these enzymes to be metabolized safely. Doctors can also manage symptoms such as vision problems or organ failure.
The severity of an enzyme deficiency varies, depending on the enzyme involved. In some cases, a lack of key enzymes can be fatal. Other patients may have shortened life spans and significant health problems due to a lack of the enzymes they need to successfully metabolize various foods. In conditions such as the so-called “fishy smell syndrome”, enzyme deficiency is primarily an inconvenience and is not considered life-threatening or particularly dangerous to the patient’s health, although it can cause discomfort.
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