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
| Autor: | Tadao Orii, Toshiyuki Fukao, Hiroh Watanebe, Tomiko Kuhara, Xiang-Qian Song, Noriyuki Aoyanagi, Ryuichi Tsukino, Naomi Kondo, Shigeru Uemura, Akihiko Kodama, Isamu Matsumoto |
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| Rok vydání: | 2008 |
| Předmět: |
Male
medicine.medical_specialty Beta-ketothiolase deficiency Glycine Ketone Bodies Biology Nuclear Family Consanguinity Japan Internal medicine Genetics medicine Humans Lymphocytes Isoleucine Child Amino Acid Metabolism Inborn Errors Genetics (clinical) Cell Line Transformed chemistry.chemical_classification Thiolase Metabolic disorder Infant Newborn Acetyl-CoA C-Acyltransferase medicine.disease Enzyme Endocrinology chemistry Cell culture Inborn error of metabolism Acetyl-CoA C-acetyltransferase Coenzyme A-Transferases Acidosis |
| Zdroj: | Clinical Genetics. 50:263-266 |
| ISSN: | 1399-0004 0009-9163 |
| DOI: | 10.1111/j.1399-0004.1996.tb02641.x |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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