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...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
Mazandaran University of Medical Sciences
2020-07-01
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Series: | Journal of Pediatrics Review |
Subjects: | |
Online Access: | http://jpr.mazums.ac.ir/article-1-257-en.html |
Summary: | 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 acid and isovaleric glycine in urinary acid profile was reported. We also performed a brief review about the presented case; IVA in international databases for English language articles on children.
Several manners exist to screen IVA patients and the best one is GC-MS in urine analysis. The prognosis of the disease depends on the early interventions. |
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ISSN: | 2322-4398 2322-4401 |