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Deficiency of "acetyl-CoA" acetyltransferase
Did you mean Deficiency of "acetyl-CoA" "acetyl transferase"?
- ... T2 deficiency Β-ketothiolase deficiency Genetic Testing Registry: Deficiency of acetyl-CoA acetyltransferase Beta-ketothiolase deficiency National Organization for Rare Disorders ( ...
- ... ACAT1 gene have been identified in people with beta-ketothiolase deficiency. The condition usually appears before age 2 and ... coma. Some of the genetic changes that cause beta-ketothiolase deficiency disrupt the normal function of the enzyme, while ...
- ... making the E2 enzyme (also known as dihydrolipoamide acetyltransferase), which is ... with pyruvate dehydrogenase deficiency; mutation of the DLAT gene is a very ...
- ... of the chemical reaction that converts pyruvate to acetyl-CoA. In addition, other proteins ... dihydrolipoamide acetyltransferase (E2) deficiency. Ann Neurol. 2005 Aug;58(2): ...
