title: Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes.
abstract: Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inherited metabolic disorder of isoleucine and ketone body catabolism. We report the cases of two siblings who showed clinically mild forms of this disorder. They did not excrete tiglylglycine in urine. Their EB-transformed lymphocytes contained residual T2 activity, which was confirmed by immunotitration analysis. In immunoblot analysis, the bands corresponding to T2 in the samples of the cell lines from two patients were the most intensely detected among those from 19 T2-deficient cell lines tested.
authors.affiliation: Department of Pediatrics, Gifu University School of Medicine, Japan. toshi-gif@umin.u-tokyo.ac.jp
authors.forename: T
authors.initials: T
authors.lastname: Fukao
authors.forename: A
authors.initials: A
authors.lastname: Kodama
authors.forename: N
authors.initials: N
authors.lastname: Aoyanagi
authors.forename: R
authors.initials: R
authors.lastname: Tsukino
authors.forename: S
authors.initials: S
authors.lastname: Uemura
authors.forename: X Q
authors.initials: XQ
authors.lastname: Song
authors.forename: H
authors.initials: H
authors.lastname: Watanebe
authors.forename: T
authors.initials: T
authors.lastname: Kuhara
authors.forename: I
authors.initials: I
authors.lastname: Matsumoto
authors.forename: T
authors.initials: T
authors.lastname: Orii
authors.forename: N
authors.initials: N
authors.lastname: Kondo
mesh_terms: D000102:Acetyl-CoA C-Acyltransferase / Q000097:blood / Q000172:deficiency*; D000138:Acidosis / Q000097:blood; D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000201:enzymology*; D002461:Cell Line, Transformed; D002648:Child; D015256:Coenzyme A-Transferases / Q000097:blood; D003241:Consanguinity; D005998:Glycine / Q000031:analogs & derivatives / Q000652:urine; D006801:Humans; D007231:Infant, Newborn; D007532:Isoleucine / Q000378:metabolism / Q000652:urine*; D007564:Japan; D007657:Ketone Bodies / Q000378:metabolism; D008214:Lymphocytes / Q000201:enzymology*; D008297:Male; D009679:Nuclear Family
chemical_list: D007657:Ketone Bodies; D007532:Isoleucine; C003603:tiglylglycine; D000102:Acetyl-CoA C-Acyltransferase; D015256:Coenzyme A-Transferases; C021460:3-ketoacid CoA-transferase; D005998:Glycine