This may not be the typical question posed on this forum but I would really appreciate any insight. I am trying to identify disorders that meet some or all of following criteria:
1. Caused by a deficiency of a small molecule in the body.
2. Prognosis moderate or serious (not well controlled by dietary restrictions for example)
3. The small molecule that is deficient is located in the cytosol of cells.
4. Bonus if the liver is primarily affected.
The idea is to figure out some diseases that might be served by a liposomal treatment which delivers a small molecule to the cytosol of cells. The issue I have run into is that most genetic disorders result from a deficiency of a protein or enzyme which may or may not also result in a toxic accumulation of some substrate.
I have found a few possibilities including Dihydropteridine reductase deficiency and 6-Pyruvoyltetrahydropterin synthase deficiency (both resulting in low BH4, a neurotransmitter precursor) as well as possibly Canavan disease (lack of acetate?) and Adenylosuccinate lyase deficency (lack of AMP or purine precursors?).
Any other thoughts? Some disorders in the Krebs cycle looked good (lack of various phosphosugars), however, they take place in the mitochondira so they're out.
Thanks