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   The Chronic Intermittent Form of Isovaleric Acidemia With Staphylococcal Scalded Skin Syndrome: A Case Report and Literature Review  
   
نویسنده Zamanfar Daniel ,Keyhanian Elham ,Ghazaiean Mobin ,Rostami Maskopaii Somayeh
منبع Journal Of Pediatrics Review - 2020 - دوره : 8 - شماره : 3 - صفحه:181 -188
چکیده    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.
کلیدواژه Isovaleric Acidemia ,Chronic Phenotype ,Isovaleric-Coa Dehydrogenase
آدرس Mazandaran University Of Medical Sciences, Diabetes Research Center, Department Of Pediatric Endocrinology, Iran, Mazandaran University Of Medical Sciences, Department Of Pediatric, Iran, Mazandaran University Of Medical Sciences, School Of Medicine, Iran, Mazandaran University Of Medical Sciences, Pediatric Infectious Diseases Research Center, Iran
پست الکترونیکی somayehrostami14@yahoo.com
 
 

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