What is the prevalence of Isovaleric acidemia?
How many people does Isovaleric acidemia affect? Does it have the same prevalence in men and women? And in the different countries?
Isovaleric acidemia is a rare autosomal recessive disorder characterized by the deficiency of an enzyme called isovaleryl-CoA dehydrogenase. It affects the metabolism of the amino acid leucine, leading to the accumulation of isovaleric acid in the body. The prevalence of isovaleric acidemia is estimated to be around 1 in 250,000 to 1 in 500,000 births worldwide. This condition can present with symptoms such as poor feeding, vomiting, seizures, and developmental delays. Early diagnosis and management are crucial to prevent life-threatening complications. Genetic counseling is recommended for families with a history of isovaleric acidemia.
Isovaleric acidemia is a rare genetic disorder that affects the breakdown of proteins in the body. It is classified as an organic acidemia, which means it leads to the accumulation of toxic acids in the blood and tissues. The condition is caused by a deficiency of the enzyme isovaleryl-CoA dehydrogenase, which is necessary for the metabolism of the amino acid leucine.
The prevalence of isovaleric acidemia is estimated to be around 1 in 250,000 to 1 in 500,000 individuals worldwide. Although it is considered a rare disorder, its incidence may vary among different populations. The condition is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene for their child to be affected.
Isovaleric acidemia can present in infancy or early childhood and symptoms may include poor feeding, vomiting, seizures, developmental delays, and a distinctive odor resembling sweaty feet. If left untreated, it can lead to life-threatening metabolic crises.
Early diagnosis through newborn screening programs and prompt treatment with a specialized diet low in leucine and other amino acids can significantly improve outcomes for individuals with isovaleric acidemia.
