ACADSB
ACADSB (Short/Branched Chain Acyl-CoA Dehydrogenase) is a protein that in humans is encoded by the ACADSB gene. This protein is part of a family of enzymes known as acyl-CoA dehydrogenases, which are involved in the metabolism of fatty acids and some amino acids.
Function[edit | edit source]
The ACADSB protein is involved in the breakdown of the amino acids leucine, isoleucine, and valine. These amino acids are part of a group known as the branched-chain amino acids (BCAAs), which are named for their chemical structure. The ACADSB protein helps to convert these amino acids into energy.
Clinical significance[edit | edit source]
Mutations in the ACADSB gene can lead to a condition known as 2-methylbutyrylglycinuria, a rare disorder characterized by an inability to properly break down certain amino acids. Symptoms can include developmental delay, seizures, and a distinctive odor in the urine.
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