Chronic intermittent form of isovaleric aciduria in a 2-year-old boy
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...
Main Authors: | , , , , , |
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Format: | Article |
Language: | English |
Published: |
Korean Pediatric Society
2013-08-01
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Series: | Korean Journal of Pediatrics |
Subjects: | |
Online Access: | http://kjp.or.kr/upload/pdf/kjped-56-351.pdf |