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...

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Detalles Bibliográficos
Autores principales: Cho, Jin Min, Lee, Beom Hee, Kim, Gu-Hwan, Kim, Yoo-Mi, Choi, Jin-Ho, Yoo, Han-Wook
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Pediatric Society 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3764260/
https://www.ncbi.nlm.nih.gov/pubmed/24019846
http://dx.doi.org/10.3345/kjp.2013.56.8.351

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3764260/
https://www.ncbi.nlm.nih.gov/pubmed/24019846
http://dx.doi.org/10.3345/kjp.2013.56.8.351

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