“GLUT-1 : A glucose transporter, indicating redu

“GLUT-1 [-]: A glucose transporter, indicating reduced glucose uptake.”

I have some familiarity with GLUT-1 and am a bit surprised it made the CHAT-GPT list, maybe underscoring the limits of AI. I will trust the superior inference and reasoning of the human brain over AI; the latter also lacks creativity, a uniquely human trait.

Informational only, GLUT-1 is a genetic mediated fault with the glucose transport mechanism into the cell., and in this instance brain cells are affected. This is a devastating problem which is only treatable with an obligatory fat burning metabolism (no carbs in the diet!…high fat) to support an alternate energy source for brain cells, without which they become stressed and fail to develop. It typically manifests both as a failure to develop and in particular as a seizure disorder, which is not responsive to anti-epileptic meds. Parents are often left wandering in the diagnostic wilderness and lose precious time getting on the diet regimen. This is a very rare problem, when I looked at it years ago less than 100 patients in the U.S.

In a brilliant example of the superiority of creative human intelligence, if you are interested you should google the work of Stephen F Kingsmore, a Duke trained physician that came up with a creative solution to early diagnosis of rare diseases, some of them treatable, for NICU babies in the ICU. The human genome can now be sequenced in entirety in roughly 2 days. Kingsmore had the vision to create a tool that allowed physicians to input primary clinical symptoms and the software will cross reference rare genetic disorders. It is rapid diagnosis in a population that has a high mortality rate for providers who in the main are not conversant with the broad array of genetic disorders and related diagnostic and treatment protocols. Some of the disorders are not treatable but some are if caught quickly. GLUT-1 now has a dietary intervention that works. AI could not have imagined this solution, it requires creative imagination in problem solving. BTW, if you are interested in Kingsmore he is both a great communicator and has a well developed sense of humor so treat yourself to a video presentation rather than journal article.