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ACAT1 mutation and ketogenesis

Discussion in 'Ask Jack' started by Gracelind, Nov 2, 2013.

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  1. Gracelind

    Gracelind New Member

    Does a double mutation in the ACAT1 (+/+) gene seriously impair the ketogenic process?

    If so, is there another pathway or way to compensate?

    From http://www.snpedia.com/index.php/Rs3741049

    "The ACAT1 enzyme carries out the last step in ketone breakdown (ketolysis) during the processing of fats. The enzyme converts a molecule called acetoacetyl-CoA into two molecules of acetyl-CoA, which can be used to produce energy. In the liver, the enzyme also carries out this chemical reaction in reverse, which is the first step in building new ketones (ketogenesis)."
  2. Jack Kruse

    Jack Kruse Administrator

    ACAT 1 in humans is Acetyl-Coenzyme A acetyltransferase 1 is an acetyl-CoA C-acetyltransferase enzyme. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. I seriously doubt you really have this 3-ketothiolase deficiency because this condition is inherited in an autosomal recessive pattern and is extremely rare having only been reported in 50 to 60 individuals throughout the WORLD literature. Double mutations of this disease usually lead to a short life because the patient are constantly acidotic due to the build up of organic acids. This depletes them of glutathione, water, and they dump K and get rigid and usually have severe seizures. If a mutation in the ACAT1 gene reduces or eliminates the activity of this enzyme, the body is unable to process isoleucine and ketones properly. Again very rare and not compatible with a human life so I do not think this is important to many people since on 50-60 have been reported to have it. When organic acids build up chronically people become hypoxic and they increase transition metals in many tissues leading to a nasty demise. It is almost living in constant state of diabetic keto-acidosis.
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