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

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 ...

Source: Orphanet Journal of Rare Diseases - April 28, 2020 Category: Internal Medicine Authors: Sarah C. Gr ünert and Jörn Oliver Sass Tags: Research Source Type: research