autosomal recessive disease beta-ketothiolase deficiency https://www.malacards.org/card/alpha_methylacetoacetic_aciduria Alpha-methyl-acetoacetyl-CoA thiolase deficiency BKT MEDGEN:280689 DOID:14723 3-oxothiolase deficiency mitochondrial acetoacetyl-CoA thiolase deficiency Alpha methylacetoacetic aciduria UMLS:C1536500 3-ketothiolase deficiency NCIT:C98841 T2 deficiency beta-ketothiolase deficiency Beta ketothiolase deficiency MESH:C535434 OMIM:203750 NANDO:2200493 MONDO:0008760 NANDO:1200987 mitochondrial acetoacetyl-coenzyme A thiolase deficiency Beta-ketothiolase (T2) deficiency is a rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence. Orphanet:134 GARD:0000872 classic organic aciduria inborn disorder of ketolysis obsolete_Ketoacidosis due to beta-ketothiolase deficiency