Volume 8, Issue 3 (In Press 2020)                   J. Pediatr. Rev 2020, 8(3): 5-5 | Back to browse issues page

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Zamanfar D, Keyhanian E, Ghazaiean M, Rostami Maskopaii S. Chronic Intermittent form of Isovaleric Acidemia with presentation of Staphylococcal Scalded Skin Syndrome: A case report and review of literature. J. Pediatr. Rev. 2020; 8 (3) :5-5
URL: http://jpr.mazums.ac.ir/article-1-257-en.html
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:   (839 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.
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Type of Study: Case Report and Review of Literature | Subject: Pediatric Endocrinology
Received: 2019/08/27 | Accepted: 2019/11/2 | Published: 2020/04/21

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