biochem pathway stuff

Question 1

What is classic galactosemia?

Answer 1

deficiency in galactose-1-phosphate uridyltransferase (GALT)

autosomal recessive

cataracts (accumualtion of galactitol in lens), hepatomegaly, jaundince, failure to thrive, increased risk for E.coli sepsis (gram -)

Question 2

What is galactokinase deficiency?

Answer 2

deficiency in galactokinase

autosomal recessive

benign (KINder)

still gets cataracts due to galactitol buildup in lens

can see galactose in blood and urine

Question 3

What is Essential fructosuria?

Answer 3

deficiency in fructokinase (cannot convert fructose into fructose-1-phosphate)

autosomal recessive

benign

can detect fructose in blood and urine

Question 4

What is fructose intolerance?

Question 5

Fabry’s disease

Answer 5

Question 6

Tay sachs

Answer 6

Question 7

metachromatic leukodystrophy

Answer 7

Question 8

Krabbe’s disease

Answer 8

Question 9

Gaucher’s disease

Answer 9

Question 10

Niemann-Pick disease

Answer 10

Question 11

Hurler syndrome

Answer 11

Question 12

Hunter syndrome

Answer 12