Glutaric acidemia type II
Glutaric acidemia type II (pronounced glu-tar-ic a-cid-em-ia type two), also known as multiple acyl-CoA dehydrogenase deficiency (MADD), is a rare genetic metabolic disorder. The condition is characterized by the body's inability to properly process certain proteins and fats, leading to a buildup of harmful substances in the blood and tissues.
Etymology
The term "Glutaric acidemia type II" is derived from the name of the substance that accumulates in the body, glutaric acid, and the term "acidemia", which refers to an abnormal acidity of the blood. The "type II" designation distinguishes this condition from Glutaric acidemia type I, which is a different disorder involving glutaric acid.
Symptoms
Symptoms of Glutaric acidemia type II can vary widely, ranging from mild to severe. They may include hypoglycemia, metabolic acidosis, muscle weakness, and problems with physical development. In severe cases, the condition can lead to life-threatening health problems.
Causes
Glutaric acidemia type II is caused by mutations in the ETFA, ETFB, or ETFDH genes. These genes provide instructions for making proteins that are essential for a process called fatty acid oxidation, in which fats are broken down and converted into energy.
Diagnosis
Diagnosis of Glutaric acidemia type II typically involves a combination of physical examination, medical history, and laboratory tests. These tests may include blood and urine tests to check for high levels of certain acids and other substances that can indicate the disorder.
Treatment
Treatment for Glutaric acidemia type II typically involves a combination of dietary management, medications, and in some cases, surgery. The goal of treatment is to manage symptoms and prevent complications.
See also
External links
- Medical encyclopedia article on Glutaric acidemia type II
- Wikipedia's article - Glutaric acidemia type II
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