Mitochondrial acetoacetyl‐CoA thiolase (T2, encoded by the ACAT1 gene) deficiency is an inherited disorder of ketone body and isoleucine metabolism. It typically manifests with episodic ketoacidosis. The presence of isoleucine‐derived metabolites …

Sep 1, 2019 · Deficiency of ACAT1 is an inherited metabolic disorder, which results from a defect in mitochondrial acetoacetyl-CoA thiolase activity and is clinically characterized with patients presenting ketoacidosis.

More than 100 mutations in the ACAT1 gene have been identified in people with beta-ketothiolase deficiency. The condition usually appears before age 2 and causes episodes (called ketoacidotic attacks) of vomiting, dehydration and other health problems, which can lead to coma.

In tumor cells, ketolysis “via” succinyl-CoA: 3-oxoacid-CoAtransferase (SCOT) and acetyl-CoA acetyltransferase 1 (ACAT1) is a major source of mitochondrial acetyl-CoA. Active ACAT1 tetramers stabilize by tyrosine phosphorylation, which facilitates the SCOT reaction and ketolysis.

Jun 10, 2024 · Diabetic ketoacidosis is typically seen in autoimmune type 1 diabetes mellitus and more rarely in young onset type 2 diabetes mellitus. Beta-ketothiolase deficiency (BKD) is a rare autosomal recessive condition affecting isoleucine catabolism and ketone body metabolism.

Dec 17, 2019 · We found that ACAT1, BDH2, HMGCL, the three key genes involved in the ketogenesis and ketolysis, were significantly downregulated in ccRCC (Figure 1A), suggesting an alteration of ketone body metabolism in ccRCC.

Apr 25, 2023 · Out of four major rate-limiting enzymes of ketolysis, only acetyl-coenzyme A acetyltransferase1 (ACAT1) expression is increased in paired human CRC tissues. These findings suggest probable...

Feb 8, 2025 · Title: Elevated serum β-hydroxybutyrate, a circulating ketone metabolite, accelerates colorectal cancer proliferation and metastasis via ACAT1. ACAT1-mediated METTL3 acetylation inhibits cell migration and invasion in triple negative breast cancer.

Mar 30, 2025 · ACAT1 (Acetyl-CoA Acetyltransferase 1) is a Protein Coding gene. Diseases associated with ACAT1 include Alpha-Methylacetoacetic Aciduria and Disorder Of Keton Body Transport. Among its related pathways are Ketone body metabolism and Leucine, isoleucine and valine metabolism.

Explore the ACAT1 gene, its role in cholesterol metabolism, its connection to cardiovascular disease, and potential therapeutic applications in drug development.