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...
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Mazandaran University of Medical Sciences
2020-07-01
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| Series: | Journal of Pediatrics Review |
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| Online Access: | http://jpr.mazums.ac.ir/article-1-257-en.html |
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doaj-b621e7c252e2463d9326e48e712e17472020-11-25T02:59:46ZengMazandaran University of Medical SciencesJournal of Pediatrics Review2322-43982322-44012020-07-0183181188The Chronic Intermittent Form of Isovaleric Acidemia With Staphylococcal Scalded Skin Syndrome: A Case Report and Literature ReviewDaniel Zamanfar0Elham Keyhanian1Mobin Ghazaiean2Somayeh Rostami Maskopaii3 Diabetes Research Center, Department of Pediatric Endocrinology, Mazandaran University of Medical Sciences, Sari, Iran. Department of Pediatric, Mazandaran University of Medical Sciences, Sari, Iran. School of Medicine, Mazandaran University of Medical Sciences, Sari, Iran. Pediatric Infectious Diseases Research Center, Mazandaran University of Medical Sciences, Sari, Iran. 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.http://jpr.mazums.ac.ir/article-1-257-en.htmlisovaleric acidemiachronic phenotypeisovaleric-coa dehydrogenase |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Daniel Zamanfar Elham Keyhanian Mobin Ghazaiean Somayeh Rostami Maskopaii |
| spellingShingle |
Daniel Zamanfar Elham Keyhanian Mobin Ghazaiean Somayeh Rostami Maskopaii The Chronic Intermittent Form of Isovaleric Acidemia With Staphylococcal Scalded Skin Syndrome: A Case Report and Literature Review Journal of Pediatrics Review isovaleric acidemia chronic phenotype isovaleric-coa dehydrogenase |
| author_facet |
Daniel Zamanfar Elham Keyhanian Mobin Ghazaiean Somayeh Rostami Maskopaii |
| author_sort |
Daniel Zamanfar |
| title |
The Chronic Intermittent Form of Isovaleric Acidemia With Staphylococcal Scalded Skin Syndrome: A Case Report and Literature Review |
| title_short |
The Chronic Intermittent Form of Isovaleric Acidemia With Staphylococcal Scalded Skin Syndrome: A Case Report and Literature Review |
| title_full |
The Chronic Intermittent Form of Isovaleric Acidemia With Staphylococcal Scalded Skin Syndrome: A Case Report and Literature Review |
| title_fullStr |
The Chronic Intermittent Form of Isovaleric Acidemia With Staphylococcal Scalded Skin Syndrome: A Case Report and Literature Review |
| title_full_unstemmed |
The Chronic Intermittent Form of Isovaleric Acidemia With Staphylococcal Scalded Skin Syndrome: A Case Report and Literature Review |
| title_sort |
chronic intermittent form of isovaleric acidemia with staphylococcal scalded skin syndrome: a case report and literature review |
| publisher |
Mazandaran University of Medical Sciences |
| series |
Journal of Pediatrics Review |
| issn |
2322-4398 2322-4401 |
| publishDate |
2020-07-01 |
| description |
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. |
| topic |
isovaleric acidemia chronic phenotype isovaleric-coa dehydrogenase |
| url |
http://jpr.mazums.ac.ir/article-1-257-en.html |
| work_keys_str_mv |
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