Lysosomal storage diseases

Question 1

Fabry disease findings

Answer 1

• -Early: episodic peripheral neuropathy, angiokeratomas, hypohidrosis
• -Late: progressive renal failure, cardiovascular disease
• -X-linked recessive

Question 2

Fabry disease deficient enzymes

Answer 2

Alpha-galactosidase A (Glycosphingolipid metabolic pathway)

Question 3

Fabry disease accumulated substrate

Answer 3

Ceramide trihexoside

Question 4

Gaucher disease findings

Answer 4

• -Most common lysosomal storage disorder
• -Autosomal recessive
• -Hepatosplenomegaly
• -Pancytopenia
• -Osteoporosis
• -Aseptic necrosis of femur
• -Bone crises
• -Gaucher cells (lipid laden macrophages that look like crumpled tissue paper)
• -More common in Ashkenazi Jewish population

Question 5

Gaucher disease deficient enzyme

Answer 5

Glucocerebrosidase (Beta-glucosidase)

Question 6

Gaucher disease treatment

Answer 6

Recombinant glucocerobrosidase

Question 7

Gaucher disease accumulated substrate

Answer 7

Glucocerebroside

Question 8

Niemann-Pick disease findings

Answer 8

• -Progressive neurodegeneration
• -Hepatosplenomegaly
• -Foam cells
• -Autosomal recessive
• -Cherry red spot of macula
• -More common in Ashkenazi Jewish population

Question 9

Niemann-Pick disease deficient enzyme

Answer 9

Sphingomyelinase

Question 10

Niemann-Pick disease accumulated substrate

Answer 10

Spingomyelin

Question 11

Tay-Sachs disease findings

Answer 11

• -Progressive neurodegeneration
• -Developmental delay
• -Cherry red spot on macula
• -Lysosomes with onion skin
• -No hepatosplenomegaly
• -More common in Ashkenazi Jewish population
• -Autosomal recessive

Question 12

Tay-Sachs deficient enzyme

Answer 12

Hexoaminidase A (Frameshift mutation)

Question 13

Tay-Sachs accumulated enzyme

Answer 13

GM2 ganglioside

Question 14

Krabbe Disease findings

Answer 14

• -Peripheral neuropathy
• -Developmental delay
• -Optic atrophy
• -Globoid cells (in degenerating white matter in the brain)
• -Autosomal recessive

Question 15

Krabbe deficient enzyme

Answer 15

Galactocerebrosidase

Question 16

Krabbe accumulated substrate

Answer 16

Galactocerebroside, psychosine

Question 17

Metachromatic leukodystrophy findings

Answer 17

• -Central and peripheral demyelination with ataxia
• -Dementia
• -Autosomal recessive

Question 18

Metachromatic leukodystrophy deficient enzyme

Answer 18

Arylsulfatase A

Question 19

Metachromatic leukodystrophy accumulated substrate

Answer 19

Cerebroside sulfate

Question 20

Hurler Syndrome findings

Answer 20

• -Developmental delay
• -Gargoylism
• -Airway obstruction
• -Corneal clouding
• -Hepatosplenomegaly
• -Autosomal recessive

Question 21

Hurler Syndrome deficient enzyme

Answer 21

Alpha-L-iduronidase

Question 22

Hurler Syndrome accumulated substance

Answer 22

Heparan sulfate and dermatan sulfate

Question 23

Hunter syndrome findings

Answer 23

• -Mild Hurler
• -Aggressive behavior
• -No corneal clouding
• -X-linked recessive

Question 24

Hunter syndrome deficient enzyme

Answer 24

Iduronate sulfatase

Question 25

Hunter syndrome accumulated substance

Answer 25

Heparan sulfate and dermatan sulfate