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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 |
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| Authors: | Toshiyuki Fukao Akihiko Kodama Noriyuki Aoyanagi Ryu-ichi Tsukino Shigeru Uemura Xiang-Qian Song Hiroh Watanebe Tomiko Kuhara I. Matsumoto Tadao Orii Naomi Kondo |
| Affiliation: | Department of Pediatrics, Gifu University School of Medicine, Gifu, Gifu;Department of Pediatrics, Naga Hospital, Uchida, Wakayama;Department of Pediatrics, Wakayama Medical College, Wakayama, Wakayama;Division of Human Genetics, Medical Research Institute, Kanazawa Medical University, Kanazawa, Ishikawa;Chubu Women's College, Seki, Gifu, Japan |
| 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 |
| Keywords: | beta-ketothiolase deficiency immunotitration inborn error of metabolism mitochondrial acetoacetyl-CoA thiolase organic aciduria |