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
A Novel Mutation of Beta-ketothiolase Deficiency: The First Report from Iran and Review of Literature
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DOI: 10.22037/ijcn.v12i3.16645
Abstract: Beta-ketothiolase deficiency is a rare autosomal recessive disorder characterized by an inborn error of isoleucine catabolism and affecting ketone body metabolism. Clinical features characterized by intermittent keto acidotic episodes are associated with clinical signs and… read more here.
Keywords: beta ketothiolase; mutation; ketothiolase deficiency;
Two Infants With Beta-Ketothiolase Deficiency Identified by Newborn Screening in China
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DOI: 10.3389/fgene.2019.00451
Abstract: Beta-ketothiolase deficiency (BKTD) is an autosomal recessive disease caused by a defect of mitochondrial acetoacetyl-CoA thiolase. Beginning in 2014, we carried out newborn screening by tandem mass spectrometry (MS/MS) followed by next-generation sequencing (NGS) and… read more here.
Keywords: two infants; beta ketothiolase; newborn screening; ketothiolase deficiency ... See more keywords