Organic acidemia
Organic Acidemia
Organic acidemia (pronunciation: /ɔːrˈɡænɪk əˈsiːdɪmiə/), also known as organic acid disorder, is a group of metabolic disorders characterized by the accumulation of metabolic intermediates in the form of organic acids in the body.
Etymology
The term "organic acidemia" is derived from the Greek words "organikos" meaning organic and "acidemia" meaning abnormal acidity of the blood.
Definition
Organic acidemias are a group of inherited metabolic disorders. In these disorders, the body is unable to metabolize certain proteins, fats, and carbohydrates into energy. This leads to a buildup of specific acids known as organic acids. High levels of these acids in the body can be harmful and can lead to serious health issues.
Types of Organic Acidemia
There are several types of organic acidemias, including:
- Propionic acidemia: This is caused by the body's inability to process certain parts of proteins and lipids (fats) properly.
- Methylmalonic acidemia: This is caused by a deficiency of methylmalonyl-CoA mutase, an enzyme needed to break down certain proteins and fats.
- Isovaleric acidemia: This is caused by a defect in the enzyme isovaleryl-CoA dehydrogenase, which is needed to break down the amino acid leucine.
Symptoms
Symptoms of organic acidemias vary but can include poor feeding, vomiting, lethargy, and developmental delay. In severe cases, these disorders can lead to coma and potentially death.
Diagnosis
Diagnosis of organic acidemias typically involves biochemical tests, genetic testing, and in some cases, enzyme activity assays.
Treatment
Treatment for organic acidemias typically involves dietary management to limit the intake of the specific proteins that the body cannot metabolize. In some cases, medications or supplements may be used to help the body process these proteins.
External links
- Medical encyclopedia article on Organic acidemia
- Wikipedia's article - Organic acidemia
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