Isobutyrylglycinuria

Deficiency of isobutyryl-CoA dehydrogenase, Isobutyryl-CoA dehydrogenase deficiency, IBG, IBD deficiency, Isobutyryl-coenzyme A dehydrogenase deficiency, ACAD8 deficiency, Acyl-CoA dehydrogenase family – member 8

Overview

Type of disease: Rare Condition or Disease

Isobutyryl-CoA dehydrogenase deficiency (IBD deficiency) is an inborn error of valine (an amino acid) metabolism. The symptoms, which may not develop until later in infancy or childhood, can include failure to thrive, dilated cardiomyopathy, seizures, and anemia. IBD deficiency is caused by mutations in the ACAD8 gene. It is inherited in an autosomal recessive manner. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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