ACAT1 is a mitochondrial enzyme that plays a role in metabol...

created [InstanceEdit:9915281] Rothfels, Karen, 2024-07-04
dbId 9915282
displayName ACAT1 is a mitochondrial enzyme that plays a role in metabol...
modified [InstanceEdit:9918894] Rothfels, Karen, 2024-08-18
schemaClass Summation
text ACAT1 is a mitochondrial enzyme that plays a role in metabolism of ketone bodies and isoleucine catabolism (Fukao et al, 1991; Haapalainen et al, 2007; reviewed in Fukao et al, 2019). As part of isoleucine catabolism in the mitochondria, ACAT1 catalyzes the thiolytic degradation of alpha-methylacetoacetyl-CoA to propionyl-CoA and acetyl-CoA (Fukao et al, 1991; Happalainen et al, 2007). Mutations in ACAT1 that affect protein stability and enzymatic activity are associated with beta-ketothiolase deficiency, also known as alpha-methylacetoacetic aciduria, an inborn error of metabolism that is identified by the presence of isoleucine intermediate metabolites in bodily fluids (Daum et al, 1973; Schutgens et al, 1982; Fukao et al, 1991; Fukao et al, 1992; Wakazono et al, 1995; Fukao et al, 1998; Sakurai et al, 2007; reviewed in Korman, 2006; Fukao et al, 2019). Neonatal onset is rare and most affected individuals present between 6 and 18 months with metabolic acidosis, lethargy, vomiting and sometimes coma (reviewed in Korman, 2006). As with other disorders of branched-chain metabolism, there is not a direct correlation between genotype and severity of phenotypic presentation (reviewed in Korman, 2006).
Cite Us!