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Inborn errors of ketone body metabolism

Published on October 1, 2007 Updated on July 27, 2016   33 min

A selection of talks on Clinical Practice

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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.

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