Two Libyan siblings with beta-ketothiolase deficiency: A case report and review of literature
Keywords: 2MAA; 2-methylacetoacetate; 2M3HB; 2-methyl-3-hydroxybutyrate; MS/MS; tandem mass spectrometry; SCOT; succinyl-CoA:3-oxoacid CoA transferase; T2; mitochondrial acetoacetyl-CoA thiolase; TIG; tiglylglycine; TKB; total ketone body; T2 deficiency; ACAT1; Mut