Carbohydrate metabolism and restriction

In my first two posts of the year, I presented findings that patients with Anorexia and ARFID are more likely to have mutations in genes related to using long-chain fatty acids and essential amino acids for energy. In my third post, I will now present my first finding on carbohydrate metabolism. Patients who restrict are more likely to have rare, highly damaging mutations in a gene called SLC25A13. Lack of SLC25A13 leads to a disease called Citrin Deficiency. Patients with Citrin Deficiency have been misdiagnosed in the past because of similarities with patients with Anorexia including low body weight and a strong aversion to carbohydrates.

I have recently been in touch with a great organization called the Citrin Foundation, who are actively involved in helping patients with Citrin Deficiency. They estimate that there should be several thousand cases of Citrin Deficiency in the United States, but so far only a few hundred are known. It is very likely that many of these unidentified patients have been misdiagnosed with Anorexia and have been receiving inappropriate care. They will be hosting a Information Meeting via Zoom to educate Eating Disorder practitioners on how to identify patients with Citrin Deficiency on Wednesday, March 27th. TO RSVP email: [email protected].