Gene ACAT1

Also known as

MAT, T2, THIL, ACAT

Overview

ACAT1 (Acetyl-CoA Acetyltransferase 1) encodes a mitochondrial enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. This enzyme plays a crucial role in ketone body metabolism and the breakdown of isoleucine, a branched-chain amino acid.

Mutations in ACAT1 cause beta-ketothiolase deficiency (also known as mitochondrial acetoacetyl-CoA thiolase deficiency or T2 deficiency), a rare autosomal recessive disorder of isoleucine catabolism and ketone body metabolism. Affected individuals may experience episodes of ketoacidosis, vomiting, and metabolic decompensation during illness or fasting.

Management of ACAT1 deficiency involves dietary protein restriction, particularly limiting isoleucine intake, and avoiding prolonged fasting. During acute episodes, intravenous glucose and fluid replacement are critical. Understanding your ACAT1 genetic status can help inform dietary choices and metabolic management strategies.

NutraHacker Raw DNA Analysis Products that include this gene

• Complete Mutation Nutrition Report

Upload raw DNA data to get your very own analysis of gene ACAT1 through your personalized DNA reports.