Fructose/Galactose Metabolism Deficiencies

Hereditary Fructose Intolerance affected enzyme

aldolase B
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
Essential Fructosuria affected enzyme

deficienty of fructokinase
Essential fructosuria clinical features
- benign asymptomatic condition
- does result in fructose accumulation in the blood and uring
Type 1 Galactosemia enzyme deficiency
- galactose-1-phosphate uridyl transferase
- (2nd enzyme)
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
Type 2 Galactosemia (nonclassical) affected enzyme

galactokinase
Type 2 Galactosemia (nonclassical) clinical features (4)
- galactosemia
- galactosuria
- galactitol accumulation
- cataracts due to galactitol in eye lens

Author

jaguavai

117062

Card Set

Fructose/Galactose Metabolism Deficiencies

Description

Fructose and galactose metabloic disorders

Updated

2011-11-15T21:21:34Z

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