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1. Introduction
2. Table of contents
3. Ketone body metabolism and its regulation
4. Ketone bodies (1)
5. Ketone bodies (2)
6. Ketone bodies (3)
7. Ketone body metabolism
8. Regulation of ketogenesis
9. Regulation of ketone body utilization
10. Ketogenesis in different physiological conditions
11. Diagnostic approach
12. Ketosis and ketoacidosis
13. Evaluation of ketone body metabolism
14. Blood TKB levels as a function of fasting time
15. Example (1)
16. Example (2)
17. Defects in ketogenesis (1)
18. Defects in ketogenesis (2)
19. Mitochondrial HMG-CoA synthase deficiency (1)
20. Mitochondrial HMG-CoA synthase deficiency (2)
21. HMG-CoA lyase deficiency
22. HMG-CoA lyase deficiency in Japan
23. Management for defects in ketogenesis
24. Defects in ketone body utilization (ketolysis)
25. 2 major disorders affecting ketone body utilization
26. SCOT deficiency
27. SCOT-deficient patients
28. Japanese SCOT-deficient patients
29. FFA and TKB levels before and after a meal
30. TKB levels during GS08 fasting tests
31. Monocarboxylate transporter 1 (MCT1)
32. Monocarboxylate transporter 1 deficiency
33. Mitochondrial AA-CoA thiolase (T2) deficiency
34. T2 deficiency overview
35. Metabolic pathway affected in T2 deficiency
36. T2-deficient patients
37. Molecular cloning of human T2 cDNA and gene
38. T2 gene mutations in Vietnamese population
39. 85 T2 gene mutations
40. 85 T2 gene mutations (splice site mutations)
41. Management for defects in ketone body utilization
42. T2-deficient patients with “mild” mutations
43. Definition of patients with “mild” mutations
44. Japanese T2-deficient patients
45. Urinary organic acid profiles at good condition
46. Acylcarnitine analysis using blood spots
47. Patients with “mild” vs. “severe” mutations
48. Characterizing mutations in T2-deficient patients
49. Patients and mutations (table)
50. Phenotypes of mutant proteins
51. Strategy for characterizing T2 mutants
52. E252del enzyme assay
53. Temperature-sensitive instability
54. Heat instability test for enzyme activity (E252del)
55. Kinetic analysis (E252del): CoA
56. E252del effect on enzyme structure
57. Effects of amino acid substitutions on the molecule
58. Acknowledgements (1)
59. Acknowledgements (2)
60. Acknowledgements (3)

Topics Covered

• Ketone body metabolism
• Diagnostic approach
• Defects in ketogenesis
• Defects in ketone body utilization (succinyl-CoA:3-ketoacid CoA transferase deficiency, mitochondrial acetoacetyl-CoA thiolase deficiency)
• Molecular basis of mitochondrial acetoacetyl-CoA thiolase deficiency (protein and DNA levels)

Links

Series:

• Protein Epidemiology

Categories:

• Biochemistry
• Cell Biology
• Clinical Practice

Therapeutic Areas:

• Cardiovascular & Metabolic

Talk Citation

Publication History

• Published on October 1, 2007
• Updated on July 27, 2016

Financial Disclosures

• Prof. Toshiyuki Fukao has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.