Who knows about essential penosuria, an enzyme deficiency disease associated with Ashkenazi Jews genetically?

Question

As a medical student, I am studying about this in Biochemistry. It is being reported as clinically asymptomaticand benign.However, I was wondering if it may have some mild symptoms. All my life I have a feeling of weakness and sickness after drinking some fruit juices and eating large amount of fruits such as grapes and plums. These are associated with the disease. This weakness goes away shortly and there are no other other symptoms. I also wonder about my lineage. I am descended on my mother's side from Polish ancestors but I was brought to believe we were all catholics...no one talked about any Jewish ancestry. If I have the condition would it mean I had the Jewish ancestry? Maybe someone was afraid to admit it? I would appreciate any info.

Answer 1

According to OMIM, you could also be Lebanese.

I would say that unless you have been tested and found to excrete a large amount of penTose into your urine, or have been tested and found to carry the Ashkenazi mutation in the relevant gene or an Ashkenazi haplotype for the area surrounding the gene, then you are jumping the gun about looking for your Jewish roots. Also note that since the trait is recessive, you would actually have to have hidden Jewish - or Lebanese - roots on both sides of your family.

It isn't impossible, of course, but you might want to actually have data to go on, rather than only your subjective feelings about a fruit associated weakness - especially since the condition is 'clinically asymptomatic'.

Answer 2

lol, welcome to the world of medicine, as you go on, you will find mild symptoms of lots of diseases in your self, if you are truly concerned just see your student doctor and let them evaluate you further if needed, good luck