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Printable Handouts
Navigable Slide Index
- Introduction
- Table of contents
- Ketone body metabolism and its regulation
- Ketone bodies (1)
- Ketone bodies (2)
- Ketone bodies (3)
- Ketone body metabolism
- Regulation of ketogenesis
- Regulation of ketone body utilization
- Ketogenesis in different physiological conditions
- Diagnostic approach
- Ketosis and ketoacidosis
- Evaluation of ketone body metabolism
- Blood TKB levels as a function of fasting time
- Example (1)
- Example (2)
- Defects in ketogenesis (1)
- Defects in ketogenesis (2)
- Mitochondrial HMG-CoA synthase deficiency (1)
- Mitochondrial HMG-CoA synthase deficiency (2)
- HMG-CoA lyase deficiency
- HMG-CoA lyase deficiency in Japan
- Management for defects in ketogenesis
- Defects in ketone body utilization (ketolysis)
- 2 major disorders affecting ketone body utilization
- SCOT deficiency
- SCOT-deficient patients
- Japanese SCOT-deficient patients
- FFA and TKB levels before and after a meal
- TKB levels during GS08 fasting tests
- Monocarboxylate transporter 1 (MCT1)
- Monocarboxylate transporter 1 deficiency
- Mitochondrial AA-CoA thiolase (T2) deficiency
- T2 deficiency overview
- Metabolic pathway affected in T2 deficiency
- T2-deficient patients
- Molecular cloning of human T2 cDNA and gene
- T2 gene mutations in Vietnamese population
- 85 T2 gene mutations
- 85 T2 gene mutations (splice site mutations)
- Management for defects in ketone body utilization
- T2-deficient patients with “mild” mutations
- Definition of patients with “mild” mutations
- Japanese T2-deficient patients
- Urinary organic acid profiles at good condition
- Acylcarnitine analysis using blood spots
- Patients with “mild” vs. “severe” mutations
- Characterizing mutations in T2-deficient patients
- Patients and mutations (table)
- Phenotypes of mutant proteins
- Strategy for characterizing T2 mutants
- E252del enzyme assay
- Temperature-sensitive instability
- Heat instability test for enzyme activity (E252del)
- Kinetic analysis (E252del): CoA
- E252del effect on enzyme structure
- Effects of amino acid substitutions on the molecule
- Acknowledgements (1)
- Acknowledgements (2)
- 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:
Categories:
Therapeutic Areas:
Talk Citation
Fukao, T. (2016, July 27). Inborn errors of ketone body metabolism [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved October 14, 2024, from https://doi.org/10.69645/DHSQ6099.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. Toshiyuki Fukao has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
A selection of talks on Cardiovascular & Metabolic
Transcript
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0:00
Let me introduce myself.
My name is Toshiyuki Fukao,
a Japanese pediatrician.
In this presentation, I would
like to talk about inborn
errors of ketone body metabolism.
0:14
Let me start my talk with ketone
body metabolism and its regulation.
Then move to the diagnostic approach
and defects in ketogenesis.
And finally, defects in
ketone body utilization.
The last half of my talk will focus
on the prenatal and molecular aspects
of mitochondrial acetoacetyl-CoA
thiolase (T2) deficiency.
0:41
The first topic is ketone body
metabolism and its regulation.
0:48
The term "ketone bodies"
refers to three
molecules: 3-hydroxybutyrate,
acetoacetate, and acetone.
3-hydroxybutyrate and
acetoacetate are ketone bodies
which are metabolically active.
They are small organic acids
with a molecular weight of about 100.
Acetone is volatile and responsible
for the ketone odor or breath
during ketoacidosis, but
metabolically it is not important.
1:21
Ketone bodies are acids, so an
accumulation of ketone bodies
results in ketoacidosis.
1:31
However, ketone bodies
are important vectors
of energy transfer from the
liver to the extrahepatic tissues.
Ketone bodies are especially
important in a shortage
of glucose-supply.