Fructose/Galactose Metabolism Deficiencies

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Author:
jaguavai
ID:
117062
Filename:
Fructose/Galactose Metabolism Deficiencies
Updated:
2011-11-15 16:21:34
Tags:
Pharm 412 Roseman 2014
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Description:
Fructose and galactose metabloic disorders
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  1. Hereditary Fructose Intolerance affected enzyme
    aldolase B
  2. Hereditary Fructose Intolerance clinical features (2)
    • 1) ingestion of fructose or foods containing fructose leads to accumulation of fructose-1P in the liver and accumulation of fructose in blood and urine
    • 2) Hypoglycemia results from insufficient glycogenolysis and gluconeogenesis
  3. Essential Fructosuria affected enzyme
    deficienty of fructokinase
  4. Essential fructosuria clinical features
    • benign asymptomatic condition
    • does result in fructose accumulation in the blood and uring
  5. Type 1 Galactosemia enzyme deficiency
    • galactose-1-phosphate uridyl transferase
    • (2nd enzyme)
  6. Type 1 Galactosemia clinical features (3)
    • 1) galactose-1-phosphate and galacitol accumulate in tissues
    • 2) galactose is elevated in blood (galactosemia) and urine (galactosuria)
    • 3) vomiting, diarrhea, failure to grow, jaundice
  7. Type 2 Galactosemia (nonclassical) affected enzyme
    galactokinase
  8. Type 2 Galactosemia (nonclassical) clinical features (4)
    • galactosemia
    • galactosuria
    • galactitol accumulation
    • cataracts due to galactitol in eye lens

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