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

Jin Min Cho, Beom Hee Lee, Gu-Hwan Kim, Yoo-Mi Kim, Jin-Ho Choi, Han-Wook Yoo

Clin Exp Pediatr. 2013;56(8):351-354. Published online August 27, 2013

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 associated with developmental delays, with or without recurrent acidotic episodes during periods of stress, such...

DOI: https://doi.org/10.3345/kjp.2013.56.8.351

Isovaleric Acidemia in Siblings Diagnosed by Organic Acid Analysis

Kyung Soo Cheon, Dong Hwan Lee

Clin Exp Pediatr. 2000;43(6):828-831. Published online June 15, 2000

Isovaleric acidemia is an inborn error in metabolism due to a defect in isovaleryl-CoA dehydrogenase. Accumulation of serum isovaleric acid causes poor feeding, vomiting, lethargy, hypothermia, convulsion, mental retardation, etc. It is inherited as an autosomal recessive trait. Since the first reports of isovaleric acidemia by Tanaka et al in 1966, more than 60 cases have been reported. There are...

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