Beta-ketothiolase

From WikiMD's Wellness Encyclopedia

Beta-ketothiolase (also known as Acetoacetyl-CoA thiolase) is an enzyme that plays a significant role in the metabolism of fatty acids and amino acids. It is involved in the ketone body and isoleucine catabolic pathways.

Function[edit | edit source]

Beta-ketothiolase specifically catalyzes the third step of ketone body degradation, which is the CoA-mediated thiolytic cleavage of acetoacetyl-CoA to yield 2 molecules of acetyl-CoA. In addition, it is also involved in the degradation of isoleucine and the anti catabolism of 2-methylacetoacetyl-CoA.

Clinical significance[edit | edit source]

Deficiency of this enzyme, an autosomal recessive inherited disorder, results in beta-ketothiolase deficiency, a metabolic disorder that can lead to metabolic acidosis, ketosis, and episodic encephalopathy.

See also[edit | edit source]

References[edit | edit source]


External links[edit | edit source]

Beta-ketothiolase Resources

Contributors: Prab R. Tumpati, MD