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