Highest Rated Comments

mermaid-out-of-water34 karma

Happy rare disease day!

Maybe you already knew, but if not: http://www.rarediseaseday.org

mermaid-out-of-water20 karma

The drinks provide all the necessary amino acids, but leave out phenylalanine. It's how we get the majority of our protein.

mermaid-out-of-water19 karma

I've got it and I'm 31. We are all over the place. :)

mermaid-out-of-water14 karma

Do you have any insight into why the genetic disorder phenylketonuria may have the unpleasant side effects of phobias, social isolation, anxiety, and social maturity deficits?

For a long time we thought proper treatment would mean a normal life but we're starting to notice a trend of the aforementioned issues in adults who have followed strict treatment for life.

If not no worries, just don't know where to look for answers. Assuming there are any!

mermaid-out-of-water13 karma

The most widely followed treatment is a very restricted diet, and a prescription-only protein drink that provides the remaining amino acids we can't get from food.

We also have a drug called Kuvan that can stimulate enzyme activity in the liver, but it does not work for everyone.

There is currently an injectible drug in trial called PEG-PAL that should work on everyone with PKU.

Researchers are working on other treatments and a cure as well, but the ones I listed are the only ones used currently.