Genetic Metabolic Disorders

Question 1

6 Carbohydrate disorders

Answer 1

1) Fructose intol 2) Lactose intol 3) Galactosemia 4) Fructosuria 5) Hurler’s/MPS I 6) Hunter’s/MPS 2

Question 2

Deficiency: Fructose intolerance

Answer 2

Aldolase B

Question 3

Deficiency: Lactose intolerance

Answer 3

Lactase

Question 4

Deficiency: Galactosemia

Answer 4

1) Galactokinase 2) Galactose-1-Phosphate-Uridyltransferase

Question 5

Deficiency: Fructosuria

Answer 5

Fructokinase

Question 6

Deficiency: Hurler’s

Answer 6

Alpha L idorunidase

Question 7

Deficiency: Hunter’s

Answer 7

Idorunate sulfatase

Question 8

T/F Fructosuria is usually harmful

Answer 8

F

Question 9

4 signs of Hurler’s

Answer 9

1) Large head 2) Mental retardation 3) Short life span 4) Corneal clouding

Question 10

Hunter’s and Hurler’s

Answer 10

Mental retardation

Question 11

Hunter’s is different from Hurler’s on what clinical presentations

Answer 11

ONLY Males, NO corneal clouding

Question 12

Accumulates in fructose intolerance

Answer 12

Fructose-1-phosphate, not enough free phosphate for glycogenolysis and gluconeogenesis > severe hypoglycemia

Question 13

Management of fructose intolerance

Answer 13

Decrease intake of both fructose and sucrose (glucose + fructose)

Question 14

GI cramping, pain, gas, osmotic diarrhea

Answer 14

Lactose intolerance

Question 15

Cataracts, hepatosplenomegaly, mental retardation

Answer 15

Galactosemia

Question 16

Management for galactosemia

Answer 16

Exclude galactose and lactose (galactose + glucose)