ACADSB : acyl-CoA dehydrogenase short/branched chain

Short-Chain Acyl-CoA Dehydrogenase (ACADSB): A Crucial Enzyme for Protein Metabolism

Description

The ACADSB gene encodes an enzyme called short/branched-chain acyl-CoA dehydrogenase (SBCAD). SBCAD plays a vital role in the metabolism of proteins, which are essential for various bodily functions.

Associated Diseases

Mutations in the ACADSB gene can lead to several disorders, including:

• Short-chain acyl-CoA dehydrogenase deficiency (SCADD): A rare inherited disorder characterized by the inability to break down certain amino acids, leading to a build-up of toxic metabolites that can damage the nervous system and other organs.
• Multiple acyl-CoA dehydrogenase deficiency (MADD): A more severe form of SCADD that affects the breakdown of multiple types of amino acids.

Did you Know ?

SCADD affects approximately 1 in 100,000 people worldwide, making it a relatively rare condition.