Isovaleric acidemia
Isovaleric acidemia (pronounced: eye-so-vuh-lair-ick a-see-dee-mee-uh) is a rare genetic disorder that disrupts the process of breaking down certain proteins in the body. This condition is classified as an organic acid disorder and is inherited in an autosomal recessive manner.
Etymology
The term "Isovaleric acidemia" is derived from the substance that accumulates in the body due to the disorder, isovaleric acid, and the Greek word "haima" meaning blood.
Symptoms
The symptoms of isovaleric acidemia can vary greatly among affected individuals. They may include poor feeding, vomiting, seizures, developmental delay, and a distinctive odor of sweaty feet.
Causes
Isovaleric acidemia is caused by mutations in the IVD gene. This gene provides instructions for making an enzyme that is involved in breaking down proteins from the diet.
Diagnosis
Diagnosis of isovaleric acidemia is based on the detection of increased levels of isovaleric acid in the urine. Genetic testing can confirm the diagnosis.
Treatment
Treatment for isovaleric acidemia typically involves a low-protein diet and medications to help reduce the levels of isovaleric acid in the body.
Prognosis
With early diagnosis and appropriate treatment, individuals with isovaleric acidemia can lead healthy lives. However, without treatment, this condition can lead to serious health problems and may be life-threatening.
See also
External links
- Medical encyclopedia article on Isovaleric acidemia
- Wikipedia's article - Isovaleric acidemia
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