We have been everywhere with my son, trying to find some help and answers, etc. I guess to summarize at this point, he has very rapid spikes and falls in his blood sugars when he has any form of concentrated sweets/sugars, during which time his mental status changes as a result. He does not have a diagnosis of diabetes. Also, carbohydrates make him appear like a “drunk” and he will then talk to himself for some reason. We have seen many endocrinologists, every specialty, including psych, neurology, gastroenterology, etc. with no real help. Any further suggestions or help is most welcome.

The story of intolerance to dietary carbohydrates with hypoglycemia seems sufficiently suggestive of Hereditary Fructose Intolerance to justify further diagnostic tests. The standard procedure has been to admit the patient and after a carefully calibrated dose of fructose to look for hypoglycemia and hypophosphatemia. Nowadays however it is safer to make the diagnosis from DNA which does not require admission. These steps do however almost certainly require the help of a specialised metabolic or genetic group.

The disorder is an autosomal recessive and involves a defect in fructose-1-phosphate aldolase. It is relatively easy to manage with dietary restriction but there are significant health risks in neglecting treatment.

In the meantime it would be helpful to find out if there are any symptoms after ingesting sugars other than fructose, sucrose and sorbitol, i.e. glucose itself and simple starches. It would not be a good idea to try to provoke a reaction to fructose. There are of course other possibilities which a metabolic unit could review.

I’m afraid I can’t offer any help over the facial rash and I wonder if the talking to himself may be a stress response.

DOB