Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl‐CoA thiolase (T2) deficiency
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DOI: 10.1002/humu.23831
Abstract: Mitochondrial acetoacetyl‐CoA thiolase (T2, encoded by the ACAT1 gene) deficiency is an inherited disorder of ketone body and isoleucine metabolism. It typically manifests with episodic ketoacidosis. The presence of isoleucine‐derived metabolites is the key marker… read more here.
Keywords: coa thiolase; mitochondrial acetoacetyl; acat1 variants; acetoacetyl coa ... See more keywords
Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency
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DOI: 10.1038/s10038-018-0524-x
Abstract: Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency (OMIM #203750, *607809) is an inborn error of metabolism that affects isoleucine catabolism and ketone body metabolism. This disorder is clinically characterized by intermittent ketoacidotic crises under ketogenic stresses.… read more here.
Keywords: deficiency; mitochondrial acetoacetyl; coa thiolase; ketothiolase mitochondrial ... See more keywords