metabolism disorders

Question 1

Von Gierke disease (type I) enzyme

Answer 1

Glucose-6-phosphatase (AR)

Question 2

Pompe Disease (type II) enzyme

Answer 2

Lysosmal acid α-1-4- glucosidase (acid maltase) with α-1-6- glucosidase activity (AR)

Question 3

Cori disease (type III) enzyme

Answer 3

Debranching enzyme (α-1,6-glucosidase and
4-α-D-glucanotransferase) (AR)

Question 4

Andersen disease (type IV) enzyme

Answer 4

Branching enzyme (AR)

Question 5

McArdle disease (type V) enzyme

Answer 5

Skeletal muscle glycogen phosphorylase (myophosphorylase) (AR)

Question 6

Tay-Sachs disease

Answer 6

Hexosaminidase A (AR)

Question 7

Fabray Disease enzyme

Answer 7

α-galactosidase A (XR)

Question 8

Metachormatic leukodystrophy enzyme

Answer 8

Arylsulfatase A (AR)

Question 9

Karbbe disease enzyme

Answer 9

Galactocerebrosidase (galactosylceramidase) (AR)

Question 10

Gaucher disease enzyme

Answer 10

Glucocerebrosidase (β-glucosidase) (AR)

Question 11

Neimann-Pick disease enzyme

Answer 11

Sphingomyelinase (AR)

Question 12

Hurler Syndrome enzyme

Answer 12

α-L-iduronidase (AR)

Question 13

Hunter Syndrome enzyme

Answer 13

Iduronate-2-sulfatase (XR)

Question 14

Von Gierke Presentation

Answer 14

Severe hypoglycemia
increased blood lactate levels
increased triglycerides 
Gout (increased uric acid)
Hepatomegaly/ renomegaly

Question 15

Pompe Disease Presentation

Answer 15

Cardiomyopathy,
hypotonia,
exercise intolerance

Question 16

Cori diseases presentation

Answer 16

Similar to von Gierke disease,
but milder symptoms and
normal blood lactate levels.
Can lead to cardiomyopathy.

Question 17

Andersen disease presentation

Answer 17

hepatosplenomegaly
failure to thrive in early infancy.

infantile cirrhosis,
muscular weakness,
hypotonia,
cardiomyopathy earlychildhood death

Question 18

McArdle Disease presentation

Answer 18

painful muscle cramps,
myoglobinuria (red urine) with strenuous exercise, and
arrhythmia from electrolyte abnormalities
Subsarcolemmal acid-Schiff-positive deposits (accumulation of glycogen)

Question 19

Tay Sachs Disease presentation

Answer 19

Progressive neurodegeneration,
developmental delay, 
hyperreflexia,
“cherry-red” spot on macula (lipid accumulation in ganglion cell layer), 
lysosomes with onion skin
NO hepatosplenomegaly

Question 20

Niemann Pick disease presentation

Answer 20

Progressive neurodegeneration,
hepatosplenomegaly,
foam cells (lipid-laden macrophages)
“cherry-red” spot on macula

Question 21

Fabry disease presentation

Answer 21

Early: triad of episodic peripheral neuropathy, angiokeratomas B , hypohidrosis.

Late: progressive renal failure, cardiovascular disease.

Question 22

Metachromatic Leukodystrophy presentation

Answer 22

Central and peripheral demyelination with ataxia, dementia

Question 23

Krabbe Disease presentation

Answer 23

Peripheral neuropathy, 
destruction of oligodendrocytes, 
developmental delay, 
optic atrophy,
 globoid cells.

Question 24

Gaucher Disease presentation

Answer 24

Hepatosplenomegaly, 
pancytopenia,
osteoporosis, 
avascular necrosis of femur,
 bone crises,
(lipid-laden macrophages resembling crumpled tissue paper).

Question 25

Hurler syndrome presentation

Answer 25

``` Developmental delay, skeletal abnormalities, airway obstruction, hepatosplenomegaly, corneal clouding, ```

Question 26

Hunter syndrome presentation

Answer 26

``` Developmental delay, skeletal abnormalities, airway obstruction, hepatosplenomegaly aggressive behavior, no corneal clouding ```

Question 27

Galactokinase Deficiency (enzyme/pathway)

Answer 27

Galactose---(GALK)---> Galactose-1-P Galactokinase(GALK)- AR

Question 28

Galactokinase Deficiency presentation

Answer 28

galactosemia galactosuria infantile cataracts. May present as failure to track objects or to develop a social smile.

Question 29

classic galactosemia (enzyme/ pathway)

Answer 29

Galactose-1-P --(GALT)---> Glucose-1-P galactose-1-phosphate uridyltransferase (GALT) -AR

Question 30

classic galctosemia presentation

Answer 30

``` include failure to thrive, jaundice, hepatomegaly, infantile cataracts, intellectual disability. hypoglycemia predispose to E coli sepsis in neonates. ```

Question 31

Essential fructosuria (enzyme pathway)

Answer 31

Fructose --(FK)--> Fructose-1-P Fructokinase (AR)

Question 32

essential fructosuria presentation

Answer 32

asymptomatic. fructose in blood and urine Hexokinase converts fructose to fructose-6-phosphate

Question 33

Hereditary Fructose Intolerance (enzyme/ pathway)

Answer 33

Fructose-1-P---(Ald B)--> Glyceraldehyde & Dihydroxyacetone phosphate Aldolase B (AR)

Question 34

Hereditary Fructose Intolerance presentation

Answer 34

``` Vomiting Failure to thrive Jaundice (can progress to cirrhosis) Severe hypoglycemia Hepatomegaly ```