Isovaleric acidemia synonyms
What other names are the Isovaleric acidemia known by? Synonyms and other terms with which Isovaleric acidemia is known.
Isovaleric acidemia, also known as isovaleric aciduria or IVA, is a rare genetic disorder that affects the breakdown of proteins in the body. It is classified as an organic acidemia, which is a group of metabolic disorders characterized by the accumulation of organic acids in the blood and tissues.
The condition is caused by a deficiency of the enzyme isovaleryl-CoA dehydrogenase, which is responsible for breaking down the amino acid leucine. Without this enzyme, isovaleric acid and other toxic byproducts accumulate in the body, leading to a wide range of symptoms and complications.
Symptoms
The symptoms of isovaleric acidemia can vary widely from person to person, but they typically appear in infancy or early childhood. Some common symptoms include:
- Episodes of vomiting and poor feeding
- Severe metabolic acidosis
- Enlarged liver
- Low muscle tone
- Developmental delays
- Seizures
- Characteristic "sweaty feet" odor
Treatment
There is currently no cure for isovaleric acidemia, so treatment focuses on managing symptoms and preventing complications. This often involves a strict low-protein diet, which limits the intake of leucine and other amino acids that cannot be properly metabolized. Additionally, supplements and medications may be prescribed to help support the body's metabolic processes.
Regular monitoring of blood and urine levels is essential to ensure that the condition is being managed effectively. In severe cases, hospitalization may be required during episodes of metabolic decompensation.
Prognosis
The long-term outlook for individuals with isovaleric acidemia can vary depending on the severity of the condition and how well it is managed. With early diagnosis and appropriate treatment, many individuals are able to lead relatively normal lives. However, complications such as metabolic crises and neurological damage can occur, which may impact overall health and development.
It is important for individuals with isovaleric acidemia to work closely with a team of healthcare professionals, including metabolic specialists and dietitians, to ensure optimal management of the condition.
