The Chronic Intermittent Form of Isovaleric Acidemia With Staphylococcal Scalded Skin Syndrome: A Case Report and Literature Review

被引：0

作者：

Zamanfar, Daniel ^{[1
]}

Keyhanian, Elham ^{[2
]}

Ghazaiean, Mobin ^{[3
]}

Maskopaii, Somayeh Rostami ^{[4
]}

机构：

[1] Mazandaran Univ Med Sci, Diabet Res Ctr, Dept Pediat Endocrinol, Sari, Iran

[2] Mazandaran Univ Med Sci, Dept Pediat, Sari, Iran

[3] Mazandaran Univ Med Sci, Sch Med, Sari, Iran

[4] Mazandaran Univ Med Sci, Pediat Infect Dis Res Ctr, Sari, Iran

来源：

JOURNAL OF PEDIATRICS REVIEW | 2020年 / 8卷 / 03期

关键词：

Isovaleric acidemia; Chronic phenotype; Isovaleric-CoA dehydrogenase;

D O I：

10.32598/jpr.8.3.48.2

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

引用

页码：181 / 187

页数：7

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