(ICBD) Isobutyryl-CoA Dehydrogenase Deficiency 3-Hydroxyisobutyric aciduria (IBD Deficiency)

In this condition there is an absence or a deficiency in an enzyme that is needed to breakdown proteins (amino acids), so the body is unable to use them for growth and repair. This is a disorder that affects the breakdown of the amino acid valine. The deficient or absent enzyme has not currently been determined though it is thought to possibly be 3-hydroxyisobutyryl CoA dehydrogenase.

• Parent Fact Sheet on ICBD by STAR-G/HRSA
• Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism. (Pub Med Article)
• Isobutyryl‐CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report  Mol Genet Genomic Med. 2021;00:e1595.