In this lecture we're going to discuss,
Inborn Errors of Metabolism in Children.
This is a very complicated field.
There are experts who specialize in this alone.
We're gonna try and shed some light in the complexity of this
and give some examples of errors of metabolism,
and hopefully make it a little bit easier to understand.
So here is glucose,
this is the essential building block with which we use
to create all the energy we need to run our bodies.
As you recall from biochemistry,
glucose will be stored in the liver as glycogen store, in glycogen.
Patients can have problems with storage of glycogen.
This family of metabolic disorders are glycogen storage diseases.
We'll talk about those.
Glucose is broken down into pyruvate through glycolysis
and of course in the other direction we have gluconeogenesis.
It is important to understand that that breakdown
can very rarely have some problems.
But that?s pretty rare because you can imagine
that if you're having a problem with glycolysis it's pretty hard to get by.
Glucose also is sent over to something called the pentose phosphate shunt.
The pentose phosphate shunt
is responsible for making NADPH and there is a disorder, G6PD,
which can cause problem with creating NADPH.
Because that diseases symptoms are almost entirely limited to red blood cells,
I wanno talk about G6PD during the hemo lectures which you'll see later.
Pyruvate is sent through the Krebs cycle to create ATP,
the energy for which most of our protein processes occur.
that?s also how we can feed into the fatty acid metabolism pathway
and we'll talk about some diseases of fatty acid metabolism as well.
Also, during fatty acid metabolism that?s how we make ketones.
Patients may have problems making ketones
and we'll talk about some conditions there as well.
The pyruvate is typically also sent over to start with amino acid metabolism.
Both metabolizing but even more perhaps handling amino acids
can be a problem with patient with amino acid disorders.
Some patients who have certain amino acids,
that they have a hard time digesting or managing in an effective way.
And don?t forget, amino acids may be disposed off
and in particular the nitrogen in amino acids
is disposed off through the urea cycle.
And patients can absolutely have urea cycle defects
and we'll talk about some of those as well.
So this is the overview for metabolic pathways,
and we're gonna focus on some common deficiencies in these pathways.