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 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.