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Results 1 - 2 of 2 for Deficiency of "acetyl-CoA" acetyltransferase
  1. ... 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 ...
  2. ... making the E2 enzyme (also known as dihydrolipoamide acetyltransferase), which is ... with pyruvate dehydrogenase deficiency; mutation of the DLAT gene is a very ...