Orphanet journal of rare diseases
Isobutyryl-coenzyme a dehydrogenase deficiency: disease, or non-disease?
María Daniela Santacruz Reyes, Jörn Oliver Sass
Published: 202610.1186/s13023-026-04207-7
Abstract
BACKGROUND: Isobutyryl-coenzyme A dehydrogenase deficiency (IBDD) is a rare inborn error of valine metabolism caused by variants in the ACAD8 gene. Since its initial description in 1998, a wide range of clinical features has been reported, but the di…
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