Post by meaniejean on May 5, 2010 9:49:12 GMT -5
Hey all. I just wanted to share some information that I recently ran across.
Apparently there is a set of disorders called carbohydrate-deficient glycoprotein syndromes or congenital disorders of glycosylation (CDG). These disorders can cause GI symptoms, liver disease, coagulation defects (either thrombosis or bleeding tendencies), developmental delay and psychomotor retardation.
Now, the interesting part is that HFI can cause secondary CDG because fructose-1-phosphate, which accumulates in insufficiently treated HFI, interferes with phosphomannose isomerase and other similar enzymes, causing a "deficiency" and thus symptoms of the CDG disorders.
My other theory, though, is that phosphomannose isomerase deficiency can be exacerbated by fructose intake because the metabolism of fructose interferes with the already insufficient levels of phosphomannose isomerase. Phosphomannose isomerase deficiency causes liver abnormalities which further impede fructose metabolism and the cycle spirals out of control. Removing fructose from the diet would improve the symptoms, but maybe not completely, still leaving motor issues and clotting dysfunction, for example.
Anyway, I thought it was interesting. The CDG disorders also feature hypoglycemia, thyroid dysfunction, kidney dysfunction and connective tissue symptoms. Oh - and some of them have iris coloboma as a symptom (which my brother has). Weird.
Here's a link to an interesting abstract. I wasn't able to get the article, but I can try to get it if anyone is interested. Just PM me your e-mail.
journals.lww.com/pedresearch/Fulltext/1996/11000/Inhibition_of_Phosphomannose_Isomerase_by_Fructose.17.aspx
So, I guess my other theory is that some of us may not have a very big deficiency in aldolase B, but we may have an additional partial deficiency of phosphomannose isomerase that exacerbates things and causes the other weird symptoms that we have that don't seem related to traditional HFI. It has been stated in a number of places that they are unsure as to why HFI causes liver damage - perhaps it is the secondary CDG disorder that develops.
-Sandra
Apparently there is a set of disorders called carbohydrate-deficient glycoprotein syndromes or congenital disorders of glycosylation (CDG). These disorders can cause GI symptoms, liver disease, coagulation defects (either thrombosis or bleeding tendencies), developmental delay and psychomotor retardation.
Now, the interesting part is that HFI can cause secondary CDG because fructose-1-phosphate, which accumulates in insufficiently treated HFI, interferes with phosphomannose isomerase and other similar enzymes, causing a "deficiency" and thus symptoms of the CDG disorders.
My other theory, though, is that phosphomannose isomerase deficiency can be exacerbated by fructose intake because the metabolism of fructose interferes with the already insufficient levels of phosphomannose isomerase. Phosphomannose isomerase deficiency causes liver abnormalities which further impede fructose metabolism and the cycle spirals out of control. Removing fructose from the diet would improve the symptoms, but maybe not completely, still leaving motor issues and clotting dysfunction, for example.
Anyway, I thought it was interesting. The CDG disorders also feature hypoglycemia, thyroid dysfunction, kidney dysfunction and connective tissue symptoms. Oh - and some of them have iris coloboma as a symptom (which my brother has). Weird.
Here's a link to an interesting abstract. I wasn't able to get the article, but I can try to get it if anyone is interested. Just PM me your e-mail.
journals.lww.com/pedresearch/Fulltext/1996/11000/Inhibition_of_Phosphomannose_Isomerase_by_Fructose.17.aspx
So, I guess my other theory is that some of us may not have a very big deficiency in aldolase B, but we may have an additional partial deficiency of phosphomannose isomerase that exacerbates things and causes the other weird symptoms that we have that don't seem related to traditional HFI. It has been stated in a number of places that they are unsure as to why HFI causes liver damage - perhaps it is the secondary CDG disorder that develops.
-Sandra