The Chronic Intermittent Form of Isovaleric Acidemia With Staphylococcal Scalded Skin Syndrome: A Case Report and Literature Review

The Chronic Intermittent Form of Isovaleric Acidemia With Staphylococcal Scalded Skin Syndrome: A Case Report and Literature Review

Isovaleric Acidemia (IVA) is an autosomal recessive Inborne Error of Metabolism (IEM), i.e., caused by the mutation of isovaleric-CoA dehydrogenase. Two phenotypes of IVA are reported; acute and chronic. The case was a 3-year-old boy with chronic intermittent presentation. Elevated 3-hydroxybutyric...

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Bibliographic Details
Main Authors: Daniel Zamanfar, Elham Keyhanian, Mobin Ghazaiean, Somayeh Rostami Maskopaii
Format: Article
Language:English
Published: Mazandaran University of Medical Sciences 2020-07-01
Series:Journal of Pediatrics Review
Subjects:
isovaleric acidemia
chronic phenotype
isovaleric-coa dehydrogenase
Online Access:http://jpr.mazums.ac.ir/article-1-257-en.html

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