Galactose, Fructose metabolism disorders Flashcards
Deficiency in fructokinase
Essential fructosuria
Deficiency in aldose B
Fructose Intolerance
Deficiency in galactokinase
Galactokinase deficiency
Deficiency in galactose-1-phosphate uridyltransferase
Classical galactosemia
benign, asymptomatic condition
Facts appears in blood and urine
Essential fructosuria
Deficiency decreased the amount of available phosphte and results in the inhibition of glycogenolysis and gluconeogenesis
Symptoms present following consumption of fruit, juice, or honey.
Symptoms: hypoglycemia, jaudnice, cirrhosis, hepatomegaly, vomiting
Fructose intolerance
Accumulation of Galactitol.
Symptoms: galactose appears in blood and urine, infantile cataracts. May present as failure to track objects or to develop social smile
Galactokinase deficiency
Accumulation of galactitol (especially in the eye)
symptoms: failure to thrive, guidance, hepatomegaly, infantile cataracts, intellectual disability.
Can lead to E. coli sepsis in neonates
Classic galactosemia
What type of inheritance pattern does both galactose and fructose metabolism disorders have?
Autosomal recessive
Essential fructosuria
enzyme?
Symptoms?
and the reason why – symptoms?
Fructokinase
Benign, asymptomatic, fructose in blood and in urine
The reason it is benign is because hexokinase can convert fructose load (via diet) into Fructose-6-phosphate and that will enter glycolysis
Fructose intolerance
enzyme?
Symptoms?
Tx?
Aldose B
Traps phosphates
Symptoms appear after consumption of sugars (juice, fruit, honey)
hypoglycemia, jaundice, cirrhosis, vomiting, hepatomegaly
Tx: decrease intake of both fructose and sucrose (glucose + Fructose)
Galactokinase deficiency
enzyme?
Symptoms?
Galactokinase
Symptoms: galactose appears in blood and urine, infantile cataracts. May present as failure to track objects or to develop social smile
Classic galactosemia
enzyme?
Symptoms?
treatment?
galactose-1-phosphate uridyltransferase
symptoms: failure to thrive, guidance, hepatomegaly, infantile cataracts, intellectual disability.
Can lead to E. coli sepsis in neonates
Tx. exclude galactose and lactose (galactose + glucose) from diet
