International Journal of Endocrinology and Metabolism

Published by: Kowsar

First Report of 3-Oxothiolase Deficiency in Iran

Kobra Shiasi Arani 1 , * and Babak Soltani 1
Authors Information
1 Research Center for Biochemistry and Nutrition in Metabolic Disorders, Kashan University of Medical Sciences, Kashan, IR Iran
Article information
  • International Journal of Endocrinology and Metabolism: April 01, 2014, 12 (2); e10960
  • Published Online: April 1, 2014
  • Article Type: Case Report
  • Received: March 8, 2013
  • Revised: May 18, 2013
  • Accepted: July 4, 2013
  • DOI: 10.5812/ijem.10960

To Cite: Shiasi Arani K, Soltani B. First Report of 3-Oxothiolase Deficiency in Iran, Int J Endocrinol Metab. 2014 ; 12(2):e10960. doi: 10.5812/ijem.10960.

Copyright © 2014, Research Institute For Endocrine Sciences and Iran Endocrine Society. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License ( which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
1. Introduction
2. Case Presentation
3. Discussion
  • 1. Fukao T, Horikawa R, Naiki Y, Tanaka T, Takayanagi M, Yamaguchi S, et al. A novel mutation (c.951C & gt;T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene. Mol Genet and Met. 2010; 100(4): 339-44[DOI]
  • 2. Fukao T, Nguyen HT, Nguyen NT, Vu DC, Can NTB, Pham ATV, et al. A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. Mol Genet and Met. 2010; 100(1): 37-41[DOI]
  • 3. Fukao T, Maruyama S, Ohura T, Hasegawa Y, Toyoshima M, Haapalainen AM, et al. Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1 : Subtle Abnormality in Urinary Organic Acid Analysis and Blood Acylcarnitine Analysis Using Tandem Mass Spectrometry. JIMD Rep. 2012; 3: 107-15[DOI][PubMed]
  • 4. Fukao T, Scriver CR, Kondo N. The Clinical Phenotype and Outcome of Mitochondrial Acetoacetyl-CoA Thiolase Deficiency (β-Ketothiolase or T2 Deficiency) in 26 Enzymatically Proved and Mutation-Defined Patients. Mol Genet and Met. 2001; 72(2): 109-14[DOI]
  • 5. Ensenauer R, Niederhoff H, Ruiter JPN, Wanders RJA, Schwab KO, Brandis M, et al. Clinical variability in 3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency. Ann of Neurol. 2002; 51(5): 656-9[DOI]
  • 6. Zhang GX, Fukao T, Rolland MO, Zabot MT, Renom G, Touma E, et al. 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. 2004; 56(1): 60-4[DOI][PubMed]
  • 7. Th , uuml , mmler S, Dupont D, Acquaviva C, et al. Different Clinical Presentation in Siblings with Mitochondrial Acetoacetyl-CoA Thiolase Deficiency and Identification of Two Novel Mutations. Tohoku J of Exp Med. 2010; 220(1): 27-31
  • 8. Daum RS, Mamer OA, Lamm PH, Scriver CR. A " NEW " DISORDER OF ISOLEUCINE CATABOLISM. The Lancet. 1971; 298(7737): 1289-90
  • 9. Daum RS, Scriver CR, Mamer OA, Delvin E, Lamm P, Goldman H. An inherited disorder of isoleucine catabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta -hydroxybutyrate, and intermittent metabolic acidosis. Pediatr Res. 1973; 7(3): 149-60[DOI][PubMed]
  • 10. Middleton B, Bartlett K, Romanos A, Vazquez JG, Conde C, Cannon RA, et al. 3-Ketothiolase deficiency. Euro J of Pediatr. 1986; 144(6): 586-9[DOI]
  • 11. Hillman RE, Keating JP. Beta-ketothiolase deficiency as a cause of the "ketotic hyperglycinemia syndrome". Pediatr. 1974; 53(2): 221-5[PubMed]
  • 12. Ozand PT, Rashed M, Gascon GG, Al Odaib A, Shums A, Nester M, et al. 3-Ketothiolase deficiency: a review and four new patients with neurologic symptoms. Brain and Dev. 1994; 16, Supplement: 38-45[DOI]
  • 13. Halvorsen S, Stokke O, Jellum E. A variant form of 2-methyl-3-hydroxybutyric and 2-methylacetoacetic aciduria. Acta Paediatr Scand. 1979; 68(1): 123-8[PubMed]
  • 14. Gompertz D, Saudubray JM, Charpentier C, Bartlett K, Goodey PA, Draffan GH. A defect in l-isoleucine metabolism associated with alpha-methyl-beta-hydroxybutyric and alpha-methylacetoacetic aciduria: quantitative in vivo and in vitro studies. Clin Chim Acta. 1974; 57(3): 269-81[PubMed]
  • 15. O'Neill ML, Kuo F, Saigal G. MRI of Pallidal Involvement in Beta-Ketothiolase Deficiency. J Neuroimaging. 2012; [DOI][PubMed]
  • 16. Poll-The BT, Wanders RJ, Ruiter JP, Ofman R, Majoie CB, Barth PG, et al. Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases. Mol Genet Metab. 2004; 81(4): 295-9[DOI][PubMed]
  • 17. Landaas S. Accumulation of 3-hydroxyisobutyric acid, 2-methyl-3-hydroxybutyric acid and 3-hydroxyisovaleric acid in ketoacidosis. Clinica Chimica Acta. 1975; 64(2): 143-54[DOI]
  • 18. Robinson BH, Sherwood WG, Taylor J, Balfe JW, Mamer OA. Acetoacetyl CoA thiolase deficiency: a cause of severe ketoacidosis in infancy simulating salicylism. J Pediatr. 1979; 95(2): 228-33[PubMed]
  • 19. Schutgens RBH, Middleton B, Blij JFvd, Oorthuys JWE, Veder HA, Vulsma T, et al. Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts. Euro J of Pediatr. 1982; 139(1): 39-42[DOI]
  • 20. Sweetman L, Weyler W, Nyhan WL, de Céspedes C, Loria AR, Estrada Y. Abnormal metabolites of isoleucine in a patient with propionyl-CoA carboxylase deficiency. Biol Mass Spectrom. 1978; 5(3): 198-207[DOI]
Creative Commons License Except where otherwise noted, this work is licensed under Creative Commons Attribution Non Commercial 4.0 International License .
Readers' Comments