Fructose/Galactose Metabolism Flashcards
Essential Fructosuria is caused by deficiency of
Deficiency of Fructokinase
What are essential Fructosuria’s clinical features
ASYMPTOMATIC w/Positive reducing sugars in Urine
Hereditary fructose intolerance is caused by deficiency of
Aldolase B
In Hereditary fructose intolerance, which molecule is increased
Fructose-1-phosphate
Hereditary fructose intolerance clinical features
Hypoglycemia + Jaundice + Cirrhosis w/ worsening sympthoms after consumption of Fructose
Diagnosis of Hereditary fructose intolerance
Presence of reducing sugars in urine
Galactokinase deficiency is caused by deficiency of
Galactokinase
Galactokinase deficiency produces accumulation of
Galactitol
Galactokinase deficiency: Clinical features
Infantile cataracts + Elevated galactitol in urine/blood
How can you identify infantile cataracts in a patient with suspected Galactokinase deficiency
Ausence of tracking and social smile
Diagnosis of Galactokinase deficiency is made by
Presence of reducing sugars in urine
Treatment of Hereditary Fructose Intolerance
Avoidance of Fructose
Treatment of essential fructosuria
Does not need treatment
Treatment of Galactokinase deficiency
Avoidance of Galactose
Classic galactosemia is caused by deficiency of
GALT
Which molecule is accumulated in Classic Galactosemia
Galactitol
Galactose is converted into galactitol via which enzime
Aldolase Reductase
Classic Galactosemia clinical features
Infantile cataracts + FTT + Jaundice and Hepatomegaly
Classic galactosemia is associated with __________ septicemia
E.Coli
Treatment of Classic Galactosemia
Avoidance of galactose
