Different clinical presentation in siblings with mitochondrial acetoacetyl-CoA thiolase deficiency and identification of two novel mutations

Tohoku Journal of Experimental Medicine

Volumn 220, Issue 1, 2010, Pages 27-31

  Thümmler, Susanne ^a   Dupont, Didier ^a   Acquaviva, Cécile ^b   Fukao, Toshiyuki ^c   De Ricaud, Dominique ^a  

^a Fondation Lenval Hopital pour Enfants   (France)

^b Psychology Institute   (France)

^c GIFU UNIVERSITY   (Japan)

Author keywords

ketothiolase deficiency; Genotype; Mitochondrial acetoacetyl CoA thiolase deficiency; Mutation; Phenotype correlation; T2 deficiency

Indexed keywords

2 METHYL 3 HYDROXYBUTYRATE; 2 METHYLACETOACETATE; ACETOACETIC ACID; ACETYL COENZYME A ACETYLTRANSFERASE; BICARBONATE; CARBOXYLIC ACID; CREATININE; GLUCOSE; HYDROXYBUTYRIC ACID; UNCLASSIFIED DRUG;

ACETOACETYL COA THIOLASE DEFICIENCY; ARTICLE; BLOOD GAS ANALYSIS; CASE REPORT; CATALYSIS; CHROMATOGRAPHY; CLINICAL FEATURE; COMA; DISEASE SEVERITY; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GENETIC IDENTIFICATION; HOSPITALIZATION; HUMAN; INFECTION; KETOACIDOSIS; MITOCHONDRIAL MEMBRANE; PHENOTYPE; PROTEIN INTAKE; SIBLING; SKIN FIBROBLAST;

ACETYL-COA C-ACETYLTRANSFERASE; ADOLESCENT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; IMMUNOBLOTTING; MALE; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; MUTATION; POTASSIUM; SIBLINGS;

EID: 74949090954     PISSN: 00408727     EISSN: 13493329     Source Type: Journal    
DOI: 10.1620/tjem.220.27     Document Type: Article

References (16)

1. Buratti, E., Chivers, M., Královicová, J., Romano, M., Baralle, M., Krainer, A.R. & Vorechovsky, I. (2007) Aberrant 5′ splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization, Nucleic Acids Res., 35, 4250-4263.
2. Daum, R.S., Lamm, P.H., Mamer, O.A. & Scriver, C.R. (1971) A "new" disorder of isoleucine catabolism. Lancet, 2, 1289-1290.
3. Fukao, T., Scriver, C.R. & Kondo, N.; T2 Collaborative Working Group. (2001) The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients. Mol. Genet. Metab., 72, 109-114.
4. Fukao, T., Yamaguchi, S., Kano, M., Orii, T., Fujiki, Y., Osumi, T. & Hashimoto, T. (1990) Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency. J. Clin. Invest., 86, 2086-2092.
5. Fukao, T., Yamaguchi, S., Orii, T. & Hashimoto, T. (1995) Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene. Hum. Mutat., 5, 113-120.
6. Fukao, T., Yamaguchi, S., Orii, T., Schutgens, R.B.H., Osumi, T. & Hashimoto, T. (1992) Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-CoA thiolase: A complete analysis of two generations of a family with 3-ketothiolase deficiency. J. Clin. Invest., 89, 474-479.
7. Fukao, T., Yamaguchi, S., Wakazono, S., Orii, T., Hoganson, G. & Hashimoto, T. (1994) Identification of a novel exonic mutation at -13 from 5′ splice site causing exon skipping in a girl with mitochondrial acetoacetyl-coenzyme A thiolase. J. Clin. Invest., 93, 1035-1041.
8. Fukao, T., Zhang, G., Rolland, M.O., Zabot, M.T., Guffon, N., Aoki, Y. & Kondo, N. (2007) Identification of an Alu mediated tandem duplication of exons 8 and 9 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. Mol. Genet. Metab., 92, 375-378.
9. Fukao, T., Zhang, G.X., Sakura, N., Kubo, T., Yamaga, H., Hazama, A., Kohno, Y., Matsuo, N., Kondo, M., Yamaguchi, S., Shigematsu, Y. & Kondo, N. (2003) The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activity. J. Inherit. Metab. Dis., 26, 423-431.
10. Gibson, K.M., Lee, C.F., Kamali, V. & Søvik, O. (1992) A coupled assay detecting defects in fibroblast isoleucine degradation distal to enoyl-CoA hydratase: application to 3-oxothiolase deficiency. Clin. Chim. Acta, 205, 127-135.
11. Kano, M., Fukao, T., Yamaguchi, S., Orii, T., Osumi, T. & Hashimoto, T. (1991) Structure and expression of the human mitochondrial acetoacetyl-CoA thiolase-encoding gene. Gene, 109, 285-290.
12. Ozand, P.T., Rashed, M., Gascon, G.G., al Odaib, A., Shums, A., Nester, M. & Brismar, J. (1994) 3-Ketothiolase deficiency: a review and four new patients with neurologic symptoms. Brain Dev., 16 Suppl, 38-45.
13. Robinson, B.H., Sherwood, W.G., Taylor, J., Balfe, J.W. & Mamer, O.A. (1979) Acetoacetyl CoA thiolase deficiency: a cause of severe ketoacidosis in infancy simulating salicylism. J. Pediatr., 95, 228-233.
14. Shapiro, M.B. & Senapathy, P. (1987) RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res., 15, 7155-7174.
15. Zhang, G.X., Fukao, T., Rolland, M.O., Zabot, M.T., Renom, G., Touma, E., Kondo, M., Matsuo, N. & Kondo, N. (2004) Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with "mild" mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA. Pediatr. Res., 56, 60-64.
16. Zhang, G., Fukao, T., Sakurai, S., Yamada, K., Michael Gibson, K. & Kondo, N. (2006) Identification of Alu-mediated, large deletion-spanning exons 2-4 in a patient with mitochondrial acetoacetyl-CoA thiolase deficiency. Mol. Genet. Metab., 89, 222-226.