Preferred Name

Mitochondrial Diseases

Definitions

<p>Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system (enzymes) break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues. If you have a <a href="https://medlineplus.gov/metabolicdisorders.html">metabolic disorder</a>, something goes wrong with this process.</p> <p>Mitochondrial diseases are a group of metabolic disorders. Mitochondria are small structures that produce energy in almost all of your cells. They make it by combining oxygen with the fuel molecules (sugars and fats) that come from your food. When the mitochondria are defective, the cells do not have enough energy. The unused oxygen and fuel molecules build up in the cells and cause damage.</p> <p>The symptoms of mitochondrial disease can vary. It depends on how many mitochondria are defective, and where they are in the body. Sometimes only one organ, tissue, or cell type is affected. But often the problem affects many of them. Muscle and nerve cells have especially high energy needs, so muscular and neurological problems are common. The diseases range from mild to severe. Some types can be fatal.</p> <p>Genetic mutations cause these diseases. They usually happen before age 20, and some are more common in infants. There are no cures for these diseases, but treatments may help with symptoms and slow down the disease. They may include physical therapy, vitamins and supplements, special diets, and medicines.</p>

ID

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0751651

cui

C0751651

Date created

08/23/2016

definition

Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system (enzymes) break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues. If you have a metabolic disorder, something goes wrong with this process.

Mitochondrial diseases are a group of metabolic disorders. Mitochondria are small structures that produce energy in almost all of your cells. They make it by combining oxygen with the fuel molecules (sugars and fats) that come from your food. When the mitochondria are defective, the cells do not have enough energy. The unused oxygen and fuel molecules build up in the cells and cause damage.

The symptoms of mitochondrial disease can vary. It depends on how many mitochondria are defective, and where they are in the body. Sometimes only one organ, tissue, or cell type is affected. But often the problem affects many of them. Muscle and nerve cells have especially high energy needs, so muscular and neurological problems are common. The diseases range from mild to severe. Some types can be fatal.

Genetic mutations cause these diseases. They usually happen before age 20, and some are more common in infants. There are no cures for these diseases, but treatments may help with symptoms and slow down the disease. They may include physical therapy, vitamins and supplements, special diets, and medicines.

Mapped from

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0751651

Mapped to

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0751651

MP OTHER LANGUAGE URL

Spanish https://medlineplus.gov/spanish/mitochondrialdiseases.html

notation

C0751651

prefLabel

Mitochondrial Diseases

Related to

http://purl.bioontology.org/ontology/MEDLINEPLUS/C1456542

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0025517

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0002514

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0154251

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0149670

Scope Statement

Mitochondria make energy for your cells. Diseases can affect mitochondria, often causing nerve and muscle problems. Find out more.https://medlineplus.gov/mitochondrialdiseases.html

tui

T047

subClassOf

http://purl.bioontology.org/ontology/MEDLINEPLUS/C2362507

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http://purl.bioontology.org/ontology/MESH/D028361 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D028361 Medical Subject Headings / 医学主题词表 LOOM