Clinical and Experimental Pediatrics

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Jin Min Cho (Cho JM)

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Case Report

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

Crossref 7

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

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