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 ۳-year-old boy with chronic intermittent presentation. Elevated ۳-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 ها:

Isovaleric acidemia ، Chronic phenotype ، Isovaleric-CoA dehydrogenase