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Volume 8, Issue 3 (7-2020)
J. Pediatr. Rev 2020, 8(3): 181-188 |
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Zamanfar D, Keyhanian E, Ghazaiean M, Rostami Maskopaii S. The Chronic Intermittent Form of Isovaleric Acidemia With Staphylococcal Scalded Skin Syndrome: A Case Report and Literature Review. J. Pediatr. Rev 2020; 8 (3) :181-188
URL: http://jpr.mazums.ac.ir/article-1-257-en.html
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.
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: (4351 Views)
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.
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.
Type of Study: Case Report and Review of Literature |
Subject:
Pediatric Endocrinology
Received: 2019/08/27 | Accepted: 2019/11/2 | Published: 2020/07/1
Received: 2019/08/27 | Accepted: 2019/11/2 | Published: 2020/07/1
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