Article

2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways

2019-12-23

Abstract excerpt

<title>Abstract</title> <p><italic>Background: </italic>2-methylacetoacetyl-coenzyme A thiolase deficiency (MATD; deficiency of mitochondrial acetoacetyl-coenzyme A thiolase T2/ “beta-ketothiolase”) is an autosomal recessive disorder of ketone body utilization and isoleucine degradation due to mutations in <italic>ACAT1</italic>. <italic>Methods: </italic>We performed a systematic literature search for all availa...

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Literature Corpus work: 13e8416e-1516-53b3-ab4b-da0913acd2ff
DOI: 10.21203/rs.2.19460/v1

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