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sfk
Forum Elite Topics: 47 Posts: 296 |
can someone explain why galactokinase deficiency causes only cataracts and GPUT def causes many other clin manifestations as well?
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NNL
| Awaitin The Unexpected  Topics: 779 Posts: 6613
Galactokinase Def Cant produce Galactose-1-Phosphate which causes the Most damage in Galactose-1-Phosphate Uridyltransferase (GALT) deficiency. GK def still causes Cataracts bcos of Aldose Reductase Enzyme Presence. When presented with accumulated galactose, this enzyme reduces the aldehydic end group and produces galactitol, the analogous sugar alcohol. This compound exerts osmotic pressure within the lens because it diffuses very slowly.
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edie
| Forum Guru  Topics: 26 Posts: 1198
 yep, it's that galactose-1-P that wreaks havoc on liver, among other things.
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usmletopper1
| Forum Junior Topics: 13 Posts: 66
in galactokinase defeciency-unphosphorylated galotose accumulates in GIPUT defeciency-phosphorylated galactose accumulates,once the sugar is phosphorylated it kind of gets trapped inside the cell annnd cannot come out,thus serious and more manifestations compared to galactokinase defeciency.
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sfk
| Forum Elite Topics: 47 Posts: 296
ok so the serious manifestations are because of accumulation of the gal 1P, not galctose or galactitiol. by analogy, in frucose intolerance, fructokinase deficiency produces only a benign fructosuria and Aldolase def causes the more severe manifestations due to fructose 1-P accumulation. am i right?
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NNL
| Awaitin The Unexpected Topics: 779 Posts: 6613
yup something like u can say..... but its entirely a different mechanism.
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GOGETA
| Just trying to help  Topics: 495 Posts: 3833
I saw a question about that in pediatrics nnl if you score nore than 250 you will become FORUM SUPER HERO, now you are SUPER HERO in my book 
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NNL
| Awaitin The Unexpected Topics: 779 Posts: 6613
Dude Thanks for the Vote of Confidence I sure hope so to get such a score.
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sfk
| Forum Elite Topics: 47 Posts: 296
entirely different mecahnism? could u throw some more light?
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NNL
| Awaitin The Unexpected Topics: 779 Posts: 6613
In Fructose Metabolism the Def. of Aldolase B leads to Accumulation of Fructose along with Fructose-1-Phosphate. Now Galactose in itself doesnt cause any harm but the Fructose Alone leads to the Trapping of Phosphorus inside the Cells and thus causing Hypophosphatemia which leads to dec in ATP and Inc AMP which causes accelerated Uric Acid Production. This is Alone caused by Fructose yet there is Fructose 1Phosphate which leads to Severe Liver Damage along with Dec Lactic Acid Excretion in Renal Tubules.
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NNL
| Awaitin The Unexpected Topics: 779 Posts: 6613
I Hope i have made it simpler for u to understand otherwise do let me know i will give it another shot. 
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sfk
| Forum Elite Topics: 47 Posts: 296
"Galactose in itself doesnt cause any harm but the Fructose Alone leads to the Trapping of Phosphorus inside the Cells "  i believe its both fructose 1-P and gal 1-P that cause Pi depletion and consequent hyperuricemia, which accumlate in aldolase n GPUT deficiency respectively.
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NNL
| Awaitin The Unexpected Topics: 779 Posts: 6613
Ur Reference Plz Cos i havent Chked Lippincott yet but i had searched this when i was doing my own Study From NEJM.
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sfk
| Forum Elite Topics: 47 Posts: 296
read about fructose 1P in Lippincott, n gal 1P in kaplan q book. havent read NEJM!!!
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