High yield lysosomal storage diseases

Question 1

presentation of Gaucher (I) disease

Answer 1

adult onset

hepatorenomegaly

anemia, thrombocytopenia

Erlenmeyer flask deformity

Question 2

what enzyme is faulty in Gaucher dz?

Answer 2

beta glucosidase

Question 3

presentation of Tay Sachs I

Answer 3

Infantile progressive neurodegeneration

Cherry red spot on macula

increased startle reflex

normal liver and spleen

Question 4

enzyme deficiency in Tay Sachs

Answer 4

Beta hexosaminidase A

Question 5

Inheritance of Fabry disease

Answer 5

X-linked

females have delayed onset disease

Question 6

presentation of Fabry disease

Answer 6

angiokeratomas in bathing suit distribution

renal failure (proteinuria)

acroparesthesias (pain in palms and soles)

in females: heart failure

Question 7

enzyme deficiency in Fabry disease

Answer 7

alpha galactosidase

Question 8

presentation of Pompe dz in an infant

Answer 8

Profound weakness with hypertrophic cardiomyopathy

Question 9

presentation of Pompe dz in an adult

Answer 9

proximal muscle weakness with sleep apnea or other respiratory failure signs

Question 10

deficiency in Pompe disease

Answer 10

alpha glucosidase

Question 11

presentation of Hunter disease

Answer 11

coarse looking kid

short

hoarse voice

cognitive problems (but not debilitating; will decline)

GOOD eyes

hepatosplenomegaly

Question 12

enzyme deficiency in Hunter disease

Answer 12

iduronate sulfatase

Question 13

Enzyme deficiency in Hurler disease

Answer 13

alpha iduronidase

Question 14

presentation of Hurler disease

Answer 14

coarse looking kid

major skeletal problems

corneal clouding

hepatorenomegaly

Question 15

presentation of McArdle disease

Answer 15

muscle cramping after exercise

coffee-colored urine after exercise

normal liver enzymes and cognition

Question 16

inheritance of Hunter syndrom

Answer 16

x-recessive

females have NO disease

Question 17

enzyme deficiency in McArdle disease

Answer 17

glycogen phosphorylase