von Gierke's disease

I'm just taking a quick break from packing boxes and trawling through hepatic insulin resistance related to metabolic syndrome because I got (as always) side tracked. By hepatic glycogen storage this time, rather than lipid storage.

You have to giggle about glycogen storage disease type Ia. It may not be much fun if you have it, but at least you are protected against premature cardiovascular disease.

About von Gierke's disease:

"Glycogen storage disease type Ia (GSD-Ia) is characterized by hypercholesterolemia, hypertriglyceridemia, decreased cholesterol in high density lipoprotein and increased cholesterol in low and very low density lipoprotein fractions."

Of course, with lipids like those, you should die of CVD at a very early age. But you don't.

As people may recall my current hypothesis for the cause of premature CVD is that it is triggered by Purple Spotted sdLDL, something which is NEVER measured by lipidologists. This is hardly surprising because I made it up. Taking a lesson from the lipid hypothesis founders there.

So folks with glycogen storage disease type Ia have the worst possible lipid profile you can imagine and no premature CVD.

To explain this paradox (gasp in awe at the explanations) you can look at antioxidants like uric acid or do very clever things with cholesterol efflux mediators or hypothesise about adiponectin. Take your pick.

Guess what. People with glycogen storage disease type Ia are virtually never hyperglycaemic or hyperinsulinaemic. In fact hypoglycaemia can be a serious problem for them. But they don't get heart disease. Funny that.

Oh, and they are told to avoid fructose too (haven't checked why, but it seems like a good idea)... Perhaps I'm wrong about Purple Spotted sdLDL, it could just be that it's made of fructose rather than sucrose!

Peter