Galactose Metabolism

Question 1

Galactose metabolism starts with:

Answer 1

Lactose

Question 2

Lactose is converted into ___ via Lactase.

Answer 2

Galactose

Question 3

Lactose is converted into Galactose via:

Answer 3

Lactase

Question 4

Lactose breaks down into:

Answer 4

1) Galactose
2) Glucose

Question 5

Where is Lactose broken down?

Answer 5

In the brush border of the small intestine

Question 6

Galactose can be converted into either:

Answer 6

1) Galactitol
2) Galactose-1-Phosphate

Question 7

Which enzyme converts Galactose to Galactitol?

Answer 7

Aldose Reductase

Question 8

Which enzyme converts Galactose to Galactose-1-Phosphate?

Answer 8

Glactokinase

Question 9

Galactose-1-Phosphate is converted to:

Answer 9

Glucose-1-Phosphate

Question 10

Which enzyme converts Galactose-1-Phosphate to Glucose-1-Phosphate?

Answer 10

Galactokinase-1-Phosphate Uridyltransferase

Question 11

Which co-factor is needed for Galactokinase-1-Phosphate Uridyltransferase to work?

Answer 11

UDP-Glucose

Question 12

Galactokinase-1-Phosphate Uridyltransferase takes the UDP-Glucose and releases:

Answer 12

UDP-Galactose

Question 13

Which findings are found in Galactokinase deficiency?

Answer 13

1) DECREASED Galactose-1-Phosphate
2) INCREASED Galactitol

Question 14

What are the clinical findings of Galactokinase Deficiency?

Answer 14

1) Galactosemia
2) Galactosuria
3) Abnormal eye tracking
4) Lack of social smile
5) Cataracts (Infantile)

Question 15

What is the mode of inheritance of Galactokinase Deficiency?

Answer 15

Autosomal Recessive

Question 16

What is the mode of inheritance of Galactokinase Deficiency?

Answer 16

Autosomal Recessive

Question 17

What is the Mneumonic for Galactokinase Deficiency?

Answer 17

GALAC:

1) Galactosemia/Galactosuria
3) Abnormal eye tracking
4) Lack of social smile
5) Autosomal Recessive
6) Cataracts (Infantile)

Question 18

What accumulates in Galactokinase Deficiency?

Answer 18

Galactitol

Question 19

Which enzyme is deficient in Classic Galactosemia?

Answer 19

Galactokinase-1-Phosphate Uridyltransferase

Question 20

Which enzyme is deficient in Classic Galactosemia?

Answer 20

Galactokinase-1-Phosphate Uridyltransferase

Question 21

What accumulates in Classic Galactosemia?

Answer 21

1) Galactitol
2) Galactose

Question 22

What are the clinical findings of Classic Galactosemia?

Answer 22

1) Cataracts (SEVERE)
2) Liver enlargement (Hepatomegaly)
3) Autosomal Recessive
4) Sepsis (E.Coli)
5) Start of feeding (N/V/D after milk)
6) Intellectual Disability
7) Color (Yellow, Jaundice)

Question 23

What are the clinical findings of Classic Galactosemia?

Answer 23

1) Cataracts (SEVERE)
2) Hepatomegaly
3) Jaundice
4) Sepsis
5) Nausea/Vomiting/Diarrhea after milk feeding
6) Intellectual Disability

Question 24

What is the Mneumonic for Classic Galactosemia?

Answer 24

1) Cataracts (SEVERE)
2) Liver enlargement (Hepatomegaly)
3) Autosomal Recessive
4) Sepsis (E.Coli)
5) Start of feeding (N/V/D after milk)
6) Intellectual Disability
7) Color (Yellow, Jaundice)

Question 25

What is the mode of inheritance of Classic Galactosemia?

Answer 25

Autosomal Recessive

Question 26

Which bacteria most commonly causes sepsis in Classic Galactosemia?

Answer 26

E. Coli

Question 27

Treatment for Classic Galactosemia?

Answer 27

No lactose or galactose in the diet

Question 28

Which lab findings are increased in Lactose Intolerance?

Answer 28

1) H2 (Breath)
2) CH4
3) Organic acids

Question 29

Which lab findings are decreased in lactose intolerance?

Answer 29

Stool pH (acidic)

Question 30

What are the clinical findings of lactose intolerance?

Answer 30

1) Bloating
2) Gas
3) Diarrhea

Question 31

What is the primary type of lactose intolerance?

Answer 31

The age-determinant type

Question 32

Which people have the primary type of lactose intolerance?

Answer 32

1) African Americans
2) Asians
3) Native Americans

Question 33

What is the secondary type of lactose intolerance?!!!!!

Answer 33

Post-viral syndrome!!!!! (Acquired damage to the intestinal brush border)

Question 34

What would a biopsy of lactose intolerance show?

Answer 34

NORMAL intestinal mucosa