Isovaleric acidemia

From WikiMD.org
Jump to navigation Jump to search

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

Esculaap.svg

This WikiMD dictionary article is a stub. You can help make it a full article.


Languages: - East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski