ESPKU conference, Final day - Part 1

After sleeping in (oops!) and scoffing down even more sausages for breakfast, we went to the final meetings of the conference. The main theme being the future of PKU, where will it be in 10 years time?

Phenylketonuria - Pathogenesis driven treatment strategies

Speaker: Pro. Dr. Francjan van Sponsen

The future of PKU

in the future they are looking at more Pathogensis driven PKU treatment. It was agreed from the research that the diet is amazing, and it should not be forgotten that PKU is the first metabolic disorder that is able to be treated with a diet to help stop mental retardation. No other metabolic disorder had been treatable before PKU. 

However, are we just satisfied with the diet?! The answer is no!

The issues with the diet are:

- There are still problems with IQ and EF 

- The behaviour and social aspects

- the quality of life is still poor for some PKUs

- Bone density is still a problem

- with the elderly we still do not what will happen in the future!

- with young adults there is still a lot of issues and the diet is very socially demanding.

Other treatment options.

All the alternative treatment being studied now are focusing on the blood concentration of the Phe in the blood, but not towards the brain. With PKU we question why is the brain the only organ affected, the only symptoms and signs of PKU are in the brain. 

However, what is really confusing is that there are some untreated PKU's out there who do not suffer any brain damage, even though they've been on a high Phe diet all their lives. We are still not sure why this is. 

Blood Brain Barrier (BBB)

We know the amino acids travel up the spinal fluid and when it gets to the blood brain barrier, it stops too many amino acids getting through to the brain. However the problem is because there is already too much Phe in the brain, the Phe gets through the BBB but no other amino acids can, creating the side effects some PKU's feel (concentration problems etc.) because the white brain matter is disturbed. 

Trying to find the correct treatment

There are three ways of treatment

- Myelination

- Neuromatter synthsesis

- Brain protection by nutritional compounds 

Myelination

We know these things:

Lowering blood Phe - lowering brain Phe

Lowering blood Phe - increasing other Large Neutral Amino Acid (LNAA) 

Brain neurotransmitter 

This is the same as myelomation, we know: 

Lowering blood Phe - lowering brain Phe

Lowering blood Phe - increasing other LNAA

By giving BH4?

Giving more BH4 gives the brain more protection by lowering the blood Phe, it then lowers the brain Phe. 

Brain protection by nutritional compounds 

This is protecting the brain Phe levels by having a low Phe diet.

BH4 works on the Phe but not on all patients, it only works on around 30 - 40%.

And unfortunately peg pal is not being studied in Europe yet.

At the moment all research is based on:

Knowledge of yesterday 

Facts of today

Dreams of tomorrow 

What I've really found fascinating with my PKU experience is the older I get the more I am learning about what PKU is, not just a diet and a drink to have every day but a genetic disorder that affects my body in different ways at a cellular level. It's so wonderful to come to these conferences and learn even more about the science behind PKU.