Citrin deficiency: changing presentations, challenging assumptions

I appreciate the difficulty of diagnosing C-train deficiency in childhood, which is what typically was labeled as the silent period because the biochemical markers are nonspecific and symptoms varies from individuals to individuals.

So the challenge is for conditioners, what is the killer question you can ask? to see this is estrogen deficiency versus other, you know, inborn error metabolism.

So that is one of the things that we found out from our little study and from talking to patients is that if you ask them, have they ever had the history of eating too much sugar or carb and then have a physiological response of feeling nausea, vomiting, really unwell.

And we got 100% hit rate on that.

And we're trying to validate it in wider cohort because we do think that this simple question may help point towards C-train deficiency with all these nonspecific symptoms, which is really difficult for clinicians.

Yeah, and we're going to come back to that, Barbara.

And we're going to talk briefly about the silent phase because you've talked about, Sai, these recognisable presentations.

There has traditionally been this idea of this silent period in inverted commas.

Is it clinically what's meant by that?

So that refers to the fact that when citrine deficiency was first described, it was felt to have these two faces, this adult presentation and this neonatal presentation.

And the assumption was that in between, actually, there were no symptoms at all.

And as we've discussed, we now know that that's really definitely not the case.

And many children do have symptoms which maybe go under-recognized or under-appreciated or children just learn to live with and just think that it is normal.

That said though, there are patients who really do have no symptoms and we've had families where we've made a diagnosis in a child only to find that actually other siblings in the same family have also got the same genotype and really have got none of the same symptoms at that age.

And it doesn't necessarily mean that they are not going to go on to have symptoms later on as an adult.

The dietary preferences that Barbara has mentioned, though, do seem to be quite pervasive.

And that even if someone hasn't had that strong physiological reaction to having a lot of sugar, there is definitely this natural preference for a low-carbohydrate, higher-protein diet, which, again, children just seem to self-select.

It's not often that you see children choosing to have sugar.

dried meats and nuts as a snack rather than sweets.

But when you see that in a clinic, you should definitely think it could be citron deficiency.

I don't know how many parents present saying my child is unbelievably healthy.

Please investigate

it.

James, can I just jump in because I would really like to underline what Sai was just saying.

The term silent period to me is quite historical.