Lysosomal Storage Diseases

Question 1

Tay-Sachs disease - findings

Answer 1

progressive neurodegeneration
developmental delay
cherry-red spot on macula
lysosomes with onion skin
NO HEPATOSPLENOMEGALY
poor muscle tone, exaggerated startle, decreased alertness
*children lose vision/hearing early, followed by paralysis

Question 2

Tay-Sachs disease - deficient enzyme

Answer 2

Hexosaminidase A

Question 3

Tay-Sachs disease - accumulated substrate

Answer 3

GM2 ganglioside

Question 4

Tay-Sachs disease - inheritance

Answer 4

AR

ASHKENAZI JEWS

Question 5

Fabry disease - findings

Answer 5

early: triad of episodic peripheral neuropathy, angiokeratomas, hypohidrosis
late: progressive renal failure, cardiovascular disease

Question 6

Fabry disease - deficient enzyme

Answer 6

α-galactosidase A

Question 7

Fabry disease - accumulated substrate

Answer 7

ceramide trihexoside

Question 8

Fabry disease - inheritance

Answer 8

XR

Question 9

Metachromatic leukodystrophy - findings

Answer 9

central and peripheral demyelination with ataxia, dementia
gradual
blindness, loss of hearing

Question 10

Metachromatic leukodystrophy - deficient enzyme

Answer 10

arylsulfatase A

Question 11

Metachromatic leukodystrophy - accumulated substrate

Answer 11

cerebral roside sulface

Question 12

Metachromatic leukodystrophy - inheritance

Answer 12

AR

Question 13

Krabbe disease - findings

Answer 13

peripheral neuropathy
destruction of oligodendrocytes
developmental delay
optic atrophy
globoid cells

Question 14

Krabbe disease - deficient enzyme

Answer 14

galactocerebrosidase

Question 15

Krabbe disease - accumulated substrate

Answer 15

galactocerebroside, psychosine

Question 16

Krabbe disease - inheritance

Answer 16

AR

Question 17

Gaucher disease - findings

Answer 17

*most common*
hepatosplenomegaly
pancytopenia (extensive bruising, thrombocytopenia)
osteoporosis
avascular necrosis of femur (erlenmeyer flask deformity of femur)
bone crises
abdominal pain
fatty deposits (eye)
lipid-laden macrophages

Question 18

Gaucher disease - deficient enzyme

Answer 18

glucocerebrosidase ß-glucosidase

treat with recombinant glucocerebrosidase

Question 19

Gaucher Disease - accumulated substrate

Answer 19

glucocerebroside

Question 20

Gaucher disease - inheritance

Answer 20

AR

ASHKENAZI jew

Question 21

Niemann-Pick disease - findings

Answer 21

progressive neurodegeneration
hepatosplenomegaly
foam cells (lipid laden macrophages)
cherry-red spot on macula
anemia, fever, lymphadenopathy, bone marrow suppression

Question 22

Niemann-Pick disease - deficient enzyme

Answer 22

sphingomyelinase

Question 23

Niemann-Pick disease - accumulated substrate

Answer 23

sphingomyelin

Question 24

Niemann-Pick disease - inheritance

Answer 24

AR

ASHKENAZI JEWS

Question 25

Hurler Syndrome - findings

Answer 25

Mucopolysaccharidosis I
developmental delay
gargoylism
airway obstruction
corneal clouding
hepatosplenomegaly
umbilical hernias

Question 26

Hurler syndrome - deficient enzyme

Answer 26

α-L-iduronidase

Question 27

Hurler syndrome - accumulated substrate

Answer 27

heparan sulfate, dermatan sulfate

Question 28

Hurler syndrome - inheritance

Answer 28

AR

accumulation of partially degraded GAGs in lysosomes

Question 29

Hunter syndrome - findings

Answer 29

Mild Hurler + aggressive behavior

no corneal clouding

Question 30

Hunter syndrome - deficient enzyme

Answer 30

iduronate-2-sulfatase

Question 31

Hunter syndrome - accumulated substrate

Answer 31

heparan sulfate, dermatan sulfate

Question 32

Hunter syndrome - inheritance

Answer 32

XR