Chronic intermittent form of isovaleric aciduria in a 2-year-old boy

• Main Authors: Jin Min Cho (Author), Beom Hee Lee (Author), Gu-Hwan Kim (Author), Yoo-Mi Kim (Author), Jin-Ho Choi (Author), Han-Wook Yoo (Author)
• Format: Book
• Published: Korean Pediatric Society, 2013-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Isovaleric aciduria (IVA) is caused by an autosomal recessive deficiency of isovaleryl-CoA dehydrogenase (IVD). IVA presents either in the neonatal period as an acute episode of fulminant metabolic acidosis, which may lead to coma or death, or later as a "chronic intermittent form" that is...