Term
| what are the three molecules that interconvert between each other? |
|
Definition
| glucose6p-->fructose6p-->mannose6p |
|
|
Term
| what is an essential feature of the glycoprotein structure? |
|
Definition
|
|
Term
| what is the structure of N-linked glycoproteins? |
|
Definition
| two N-acetylglucosamines (GlcNac) and three mannoses. |
|
|
Term
| what is the function of phosphoglucose isomerase? |
|
Definition
| converts glucose to fructose |
|
|
Term
| what is the function of phosphomannose mutase? |
|
Definition
| converts mannose 6 phosphate to fructose 6p |
|
|
Term
| what is aldose-ketose isomerization? |
|
Definition
| moves double within same molecule w/o net change in the oxidation state of the molecule. |
|
|
Term
| what is type 1 CDG associated with? |
|
Definition
| deficiency in phosphomannose mutase 2 |
|
|
Term
| what is type 1b CDG characterized by? |
|
Definition
| phosphomannose isomerase deficiency |
|
|
Term
| what does the basic defect of CDGS appear to be |
|
Definition
| synthesis of processing of N-linked oligosaccharides |
|
|
Term
| this is used as a sensitive indicator to identify CDG |
|
Definition
| glycosylation state of serum transferrin |
|
|
Term
| what is an indicated by transferrin |
|
Definition
| altered electrophoretic mobility of unusual isoforms |
|
|
Term
| what is present in O-linked glycoproteins |
|
Definition
| fucose, sialic acid, and N-acetyl galactosamine |
|
|
Term
| GDP mannose is converted to GDP fucose releasing what |
|
Definition
|
|
Term
| decarboxylation of of UDP-glucuronic acid yields what (UDP Glu->UDP Glucuronic->?) |
|
Definition
|
|
Term
| what is UDP xylose necessary? |
|
Definition
| synthesis of proteoglycans |
|
|
Term
| this leads to formation of amino sugars and sialic acids |
|
Definition
|
|
Term
| the A allele encodes what? |
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
| symptoms of hereditary fructose intolerance |
|
Definition
| hypoglycemia, hyposphosphatemia, hypermangnesemia |
|
|
Term
| In hereditary fructose intolerance, what is interconverted? |
|
Definition
| fructose 6p and glucose 6p interconvert |
|
|
Term
| deficiency in aldolase B leads to? |
|
Definition
| low ATP and phosphate depletion |
|
|
Term
| dietary fructose is converted to fructose 1p by what enzyme |
|
Definition
|
|
Term
| how is fructose intolerance treated? |
|
Definition
| complete elimination of all sources sugar |
|
|
Term
| essential fructosuria is a deficiency in |
|
Definition
|
|
Term
| consumption of fructose from an individual with aldolase B deficiency results in |
|
Definition
| accumulation of fructose 1-phosphate and depletion of ATP |
|
|
Term
| when glucose concentration in the lens is high, this enzyme converts some of it to sorbitol |
|
Definition
|
|
Term
| sorbitol can be converted to fructose by what |
|
Definition
|
|
Term
| accumulation of sorbitol in the eye leads to increased osmolarity of the lens. what does this cause |
|
Definition
| aggregation and denaturation of the crystallins |
|
|
Term
|
Definition
| changes in the structural organization of crystallins w/increased light scattering |
|
|
Term
| when aldolase reductase is greater than the activity of polyol dehydrogenase, what does that cause |
|
Definition
| accumulation of sorbitol leading to catarcts |
|
|
Term
| when aldolase reductase is greater than the activity of polyol dehydrogenase, what does that cause |
|
Definition
| accumulation of sorbitol leading to catarcts |
|
|
Term
| interconversion of glucose and galactose requires formation of |
|
Definition
|
|
Term
| deficiency in this enzyme causes a relatively mild form of galactosemia |
|
Definition
|
|
Term
| how does excess galactose play a role in central nervous system damage? |
|
Definition
| galactose is reduced to galactitol causing accumulation in the lens. |
|
|
Term
| deficiency of this enzyme causes severe galactosemia |
|
Definition
|
|
Term
| this enzyme deficiency can cause both forms of galactosemia |
|
Definition
|
|
Term
| what forms glucuronic acid |
|
Definition
|
|
Term
| what is the major difference between UDP glucose and UDP glucuronic |
|
Definition
|
|
Term
| what is the central step in bilirubin exretion? |
|
Definition
| conjugation w/glucuronic acid by UDP-glucuronyltransferase |
|
|
Term
| congenital familial non hemolytic jaundice results from a deficiency of |
|
Definition
|
|
Term
| can humans convert glucuronic acid to ascorbic acid? |
|
Definition
|
|
Term
| what is essential for sorting of the enzymes to lysosomes |
|
Definition
| addition of a phosphate group to mannose in position 6 |
|
|
Term
| what is mucolipidosis II (I cell) disease characterized by? |
|
Definition
| deficiency in N-acetylglucosamine phosphotransferase |
|
|
Term
| what happens to fibroblasts in I cell disease |
|
Definition
| dense inclusion bodies-lack of lysosome function |
|
|
Term
| what is mucolipidosis III due to? |
|
Definition
| reduced GlcNac phosphotransferase |
|
|
Term
| what is the function of phosphomannose isomerase |
|
Definition
|
|
Term
| what does the Hgene code for in the ABO blood group systems? |
|
Definition
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