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11 Cards in this Set

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Non-Classical Galactosemia
1) enzyme
2) clinical symtptoms
3) problem
1)galactokinase
2)cataracts early in life
3)can't get galactose into cell for utilization, no real problem just pee out reducing sugar
Glassical Galactosemia
1) enzyme
2) clinical symtptoms
3) problem
1)Galactose-1-P urydiltransferase
2) cataracts, hypoglycemia vomiting & diarrhea folling lactose ingestion,bhyperbilirubinemia, lethargy, liver damage, mental retardation
3) we can get galactose in cell but once there can't convert it to glucose so it's stuck
Why hypoglycemia in classical galactosemia?
Galactose 1-P is competitive inhibiter to phosphoglucomutase enzyme which converts glucose1P to glucose 6P
Why Jaundice in classical galactosemia?
UDP-glucuronidate is a tag on biliruben. In classical galactosemia the pathway to make this is obstructed.
What is UDP glucuronidate used for?
-bilirubin excretion
-drug metabolism
Why cateracts in classical & non-classical galctosemia?
Aldose reductase converts blood galactose into sorbitol increasing osmotic P in the lens.
Females w/ galactosemia can still breast feed infants cuz making not using lactose -T/F?
T
Where does fructose enter into glycolysis?
Glycerol-3-P & DHAP
enzymes involved in fructosemia
1)fructokinase- benign
2)Aldolase B - problems
Aldose B fructosemia
lethargy, vomiting,liver damage, hyperbilirubinemia,hypoglycemia, hyperuricemia, renal proximal tubule defect
Hereditary fructose intolerance
Deficiency in fructose 1-phosphate aldolase
Leads to intracellular accumulation of F1P
Clinically – vomiting, hypoglycemia, severe liver & kidney disfxn
Eliminate dietary fructose & sucrose