Gilbert's vs. Crigler-Najjar 2

[WashMe]

What's the difference? As far as I can tell, they're both "mild deficiencies of UDP-glucuronyltransferase". Any way to differentiate them clinically? Thanks

And yes, I used the search function -- the 6 year old post about "crigler *****r syndrom" didn't answer my question.

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[Step1Hash]

What's the difference? As far as I can tell, they're both "mild deficiencies of UDP-glucuronyltransferase". Any way to differentiate them clinically? Thanks

And yes, I used the search function -- the 6 year old post about "crigler *****r syndrom" didn't answer my question.

From what I know they both are basically the same. Gilbert's is more common and not as bad as Crigler type 2. So if gilberts is a 5-10% decrease in the enzyme, criggler type 2 is like 30%. These are made up numbers but this is how my proffesor in med school described it. I would think the answer to a question will more likely be Gilbert's (esp if following stress) since it's very common.

 

[Day man]

Gilberts will be a young adult p/w intermittent jaundice. CN will be a neonate p/w kernicterus. I don't think CN is compatible with life past the early years, like 3 or so.

 

[WashMe]

Thanks to you both!

 

[RapplixGmed]

If you're interested in the differences in the molecular biology:

Gilbert's syndrome involves a mutation in the promoter sequence for UGT, which leads to decreased production of the functional enzyme.

Crigler-Najjar involves genetic mutations within the enzyme that results in either a completely dysfunctional protein (C-N I) or a protein with minimal activity (C-N II)

A very tricky way to test this would be to show a western blot of a patient with C-N 1 vs Gilbert's. The gilbert's patient would have a thin band at the proper molecular weight while the CN patient would have a thicker band at a smaller molecular weight (due to truncated protein due to nonsense mutation but same level of production).

I'll echo the others in that clinically, Gilbert's is completely benign and only noticeable after fasting or illness; while in C-N II you have to induce UGT with phenobarb as a neonate or you are in trouble; and in C-N 1, phenobarb does you no good because the protein has absolutely no activity no matter how much you induce it.

 

[sosarah]

Crigler-Najjar is a problem where they CanNot CoNjugate.
Gilbert's is a problem where they can't Get the bilirubin to the liver.

 

[Day man]

If you're interested in the differences in the molecular biology:

Gilbert's syndrome involves a mutation in the promoter sequence for UGT, which leads to decreased production of the functional enzyme.

Crigler-Najjar involves genetic mutations within the enzyme that results in either a completely dysfunctional protein (C-N I) or a protein with minimal activity (C-N II)

A very tricky way to test this would be to show a western blot of a patient with C-N 1 vs Gilbert's. The gilbert's patient would have a thin band at the proper molecular weight while the CN patient would have a thicker band at a smaller molecular weight (due to truncated protein due to nonsense mutation but same level of production).

I'll echo the others in that clinically, Gilbert's is completely benign and only noticeable after fasting or illness; while in C-N II you have to induce UGT with phenobarb as a neonate or you are in trouble; and in C-N 1, phenobarb does you no good because the protein has absolutely no activity no matter how much you induce it.

and you just reminded me today is a genetics studying kinda day. gratsi

 

[fahimaz7]

They won't make us differentiate I from II on the test. lol. At least I hope they don't...