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Chronic Intermittent form of Isovaleric Acidemia with presentation of Staphylococcal Scalded Skin Syndrome: A case report and review of literature
Daniel Zamanfar 1, Elham Keyhanian2 , Mobin Ghazaiean3 , Somayeh Rostami Maskopaii4
1- Diabetes Research center, Department of Pediatric Endocrinology, Mazandaran University of Medical Sciences, Sari, Iran , danielzamanfar@ymail.com
2- Department of Pediatric, Mazandaran University of Medical Sciences, Sari, Iran
3- School of Medicine, Mazandaran University of Medical Sciences, Sari, Iran
4- Pediatric Infectious Diseases Research Center, Mazandaran University of Medical Sciences, Sari Iran
Abstract:   (112 Views)
Introduction: Isovaleric acidemia is a type of autosomal recessive inborne errors of metabolism (IEM) that caused by mutation of Isovaleric-CoA dehydrogenase. Two phenotypes of IVA was reported: acute and chronic.
Case presentation: 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 report; IVA on international databases for English language articles in children.
Conclusion: There are some manners to screen IVA patients and the best one is GC-MS in urine analysis. The prognosis of the disease is dependent on the early interventions.
Keywords: Isovaleric acidemia, chronic phenotype, Isovaleric-CoA dehydrogenase
Full-Text [PDF 736 kb]   (30 Downloads)    
Type of Study: Case Report and Review of Literature | Subject: Pediatric Endocrinology
Received: 2019/08/27 | Accepted: 2019/11/2
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