Browse list of available series in The Biomedical & Life Sciences Collection
Recommend The Biomedical & Life Sciences Collection to your librarian
Request to be kept updated on The Biomedical & Life Sciences Collection
Apply for a free trial of The Biomedical & Life Sciences Collection
View all talks & series with full access

Guest (sample access)

Optional Login with Username


        
> Home  /  Biomedical & Life Sciences  /  Series  /  Protein Epidemiology  /  Talk Details
SHARE:   Email via Outlook   Email via Web   Facebook   Twitter   |   more
Close SHARE
Please select one of the methods below to share the following page with your collegues:
Inborn Errors of Ketone Body Metabolism
Blogger Google Reader
Delicious Linked In
Digg MySpace
Favorites PDF Online
Gmail

Hello. As a guest, you do not have full access to this talk. Click the PLAY button below to watch the sample extract. Alternatively, you may login or review methods of obtaining more access.

    SPEAKER(S)

Dr. Toshiyuki Fukao - Gifu University, Japan

Toshiyuki Fukao is an Associate Professor in the Department of Pediatrics. He is an internationally recognized pediatrician whose main research has been on inborn errors of ketone body metabolism. Dr. Fukao has been working on the molecular basis of human diseases at the genomic, RNA and protein levels.

Talk Online Publication: Oct 2007

TOPICS COVERED IN INBORN ERRORS OF KETONE BODY METABOLISM

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)

How to cite this talk:
Fukao, T. (2007), "Inborn Errors of Ketone Body Metabolism", in Dunn, B. (ed.), Protein Epidemiology: Understanding Human Diseases at the Level of Protein Structure and Function, The Biomedical & Life Sciences Collection, Henry Stewart Talks Ltd, London (online at http://hstalks.com/bio)

Direct talk access link:
http://hstalks.com/lib.php?t=HST10.1353_1_2&c=252

    DETAILED SLIDE INDEX

1. Introduction
2. Contents
3. Ketone body metabolism and its regulation
4. Ketone bodies
5. Ketone bodies are acids
6. Ketone bodies are vectors of energy transfer
7. Ketone body metabolism
8. Regulation of ketogenesis
9. Regulation of ketone body utilization
10. Ketoacidosis in defects of ketone body utilization
11. Diagnostic approach
12. Ketosis and ketoacidosis
13. Metabolic evaluation for acute crises
14. Differential diagnosis of acute metabolic crises
15. Evaluation of ketone body metabolism
16. Examples (1)
17. Examples (2)
18. Defects in ketogenesis
19. mHS and HL deficiencies
20. Mitochondrial HMG-CoA synthase deficiency (1)
21. Mitochondrial HMG-CoA synthase deficiency (2)
22. HMG-CoA lyase deficiency
23. Neurologic complication
24. Management for defects in ketogenesis
25. Defects in ketone body utilization
26. SCOT and T2 deficiencies
27. SCOT deficiency
28. SCOT deficiency (characteristics)
29. 17 affected families in the world
30. Japanese SCOT-deficient patients
31. Total ketone body levels during fasting test
32. Clinical course of GS02 (with "severe" mutations)
33. Urinary ketone (at 9 years of age)
34. Metabolic crises in GS09 and GS09b ("mild")
35. Preventive measures in GS09
36. Urinary ketones
37. TKB, FFA in "mild" and "severe" mutations
38. SCOT deficiency (summary)
39. T2 deficiency
40. T2 deficiency (characteristics)
41. Metabolic pathway affected in T2 deficiency
42. Distribution of T2 deficient patients
43. T2 deficiency questionnaire form
44. Molecular cloning of human T2 cDNA and gene
45. 34 "missense" mutations of T2 gene
46. 17 other mutations of T2 gene
47. T2 gene mutations
48. The clinical phenotype and outcome
49. Definition of mutation "severity"
50. 26 T2 deficient patients
51. Findings during acute ketoacidotic episodes
52. Onset
53. Frequency of ketoacidotic episodes
54. Outcome
55. T2 deficient patients with "mild" mutations (1)
56. Urinary organic acid and blood acylcarnitine
57. 5 Japanese T2 deficient patients
58. Urinary organic acids profiles at good condition
59. Acylcarnitine analysis using blood filter papers
60. T2 deficient patients with "mild" mutations (2)
61. Genotype-phenotype correlation
62. Management for defects in ketone body utilization
63. Characterization of 6 missense mutations
64. 5 Spanish patients
65. Enzyme assay
66. Potassium ion dependent thiolase activity
67. Immunoblot analysis
68. Mutations in 5 Spanish patients (1)
69. Missense mutation (nucleotide subsitution)
70. Transient expression analysis of mutant T2 cDNAs
71. Transient expression analysis: 1. Enzyme assay
72. Transient expression analysis: 2. Immunoblot
73. Transient expression analysis: 3. Heat stability
74. Transient expression analysis: 4. Protein stability
75. Summary of transient expression analysis
76. Mutations in 5 Spanish patients (2)
77. Model of human T3
78. K124R and A127V
79. E345V and Q145E
80. Effects of amino acid substitution on the molecule
81. Acknowledgement (1)
82. Acknowledgement (2)
83. Acknowledgement (3)
84. END