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.
