Lysosomal Storage Diseases

Question 1

Gaucher Type I

Answer 1

Beta glucosidase deficiency
\+Treatment
Adult onset
BIG LIVER/SPLEEN
Anemia/low platelets
Increased risk in Ashkenazi Jews

Question 2

Tay Sachs Type I

Answer 2

Beta-hexosaminidase A deficiency
Infantile, will die
CHERRY RED SPOT
Increased startle reflex
Normal liver/spleen
Increased risk in Ashkenazi Jews

Question 3

Fabry Disease

Answer 3

Alpha galactosidase deficiency
X-Linked recessive (females have delayed disease)
+Treatment
Angiokeratomas (bathing trunk distribution)
Renal failure
Acroparesthesias (pain in palms and soles)

Question 4

Pompe Disease

Answer 4

Alpha glucosidase
+Treatment
Infant with profound weakness and hypertrophic CM
OR
Adult with proximal muscle weakness and sleep apnea

Question 5

Hunter Disease

Answer 5

Iduronate sulfatase
\+Treatment
X-linked recessive (male's hunt)
Coarse face
Hoarse voice
NO corneal clouding

Question 6

Hurler Disease

Answer 6

Alpha iduronidase
+Treatment
Coarse face (similar to hunter)
Corneal clouding

Question 7

McArdle Disease

Answer 7

Glycogen phosphorylase
Muscle cramping after exercise
Myogolbuinuria (coffee colored urine after exercise)