question regarding galactosemia and hereditary fructose intolerance

[sylhet]

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hello...
well we all know that why there is diarrhea in lactase enzyme deficiency and we also know that galactose is a product coming from lactose. i just simply cant understand that why there is diarrhea, vomiting and infection in a patient with galactose 1P uridyl transferase enzyme deficinecy and also how diarrhea, vomiting develops in a patient with hereditary fructose intolerance? 😕 pls help.

best regards. john.

 

[absolutjag9]

since in both disorders you mentioned there's a buildup of phosphorylated substrates there is less phosphate available as a result and you have a decrease in glyogenolysis and gluconeogenesis plus the inability of the body to get rid of the phosphorylated product that is not being normally metabolized. as a result those products stay in the gi tract being unable to be broken down.

 

[DoctwoB]

hello...
well we all know that why there is diarrhea in lactase enzyme deficiency and we also know that galactose is a product coming from lactose. i just simply cant understand that why there is diarrhea, vomiting and infection in a patient with galactose 1P uridyl transferase enzyme deficinecy and also how diarrhea, vomiting develops in a patient with hereditary fructose intolerance? 😕 pls help.

best regards. john.

Absolut is right. It's not the fructose (or galactose), it's the phosphate depletion. Hence why Essential fructosuria (fructokinase deficiency) is completely benign, while hereditary fructose intolerance (aldolase B deficiency) is severe. One involves inability to phosphorylate the substrate, which just gets peed out, the other is an inability to get rid of the phosphorylated substrate

 

[sylhet]

since in both disorders you mentioned there's a buildup of phosphorylated substrates there is less phosphate available as a result and you have a decrease in glyogenolysis and gluconeogenesis plus the inability of the body to get rid of the phosphorylated product that is not being normally metabolized. as a result those products stay in the gi tract being unable to be broken down.

does galactose metabolism occur in intestinal cell too? if its yes, then deficiency of galactose 1P uridyl transferase deficiency is supposed to accumulate galactose in those cells and since galactose is highly osmotic due to the presence of those OH groups as we know , water will be drawn out of the intestine into the cell. if this is the case, then how would be there diarrhea? pls help.😕 a detail and easy explanation would be much appreciated.

Regards. John.

 

[absolutjag9]

when galactose is unable to be metabolized, it continues to be present in gi tract and this osmolar substance will draw water out into the gut lumen, causing an osmotic diarrhea (mostly water in nature is what you see).

 

[sylhet]

thanks very much absolutjag9 for ur kind help. and also thanks to DoctwoB. 😀😀