Lysosomal Storage Diseases

Question 1

What enzyme is deficient in Tay-Sachs disease?

Answer 1

Hexosaminidase A

Question 2

What substrate accumulates in Tay-Sachs disease?

Answer 2

GM2 ganglioside

Question 3

What are the clinical features of Tay-Sachs disease?

Answer 3

Progressive neurodegeneration, Cherry-red macula, Infantile onset, No hepatosplenomegaly

Question 4

What enzyme is deficient in Gaucher disease?

Answer 4

Glucocerebrosidase

Question 5

What substrate accumulates in Gaucher disease?

Answer 5

Glucocerebroside

Question 6

What are the clinical features of Gaucher disease?

Answer 6

Hepatosplenomegaly, Bone pain and fractures, Gaucher cells (macrophages with lipid inclusions), Type 1 (non-neuronopathic) most common

Question 7

What enzyme is deficient in Niemann-Pick disease?

Answer 7

Sphingomyelinase

Question 8

What substrate accumulates in Niemann-Pick disease?

Answer 8

Sphingomyelin

Question 9

What are the clinical features of Niemann-Pick disease?

Answer 9

Hepatosplenomegaly, Cherry-red macula, Neurodegeneration, Foamy macrophages, Fatal by age 3

Question 10

What enzyme is deficient in Fabry disease?

Answer 10

Alpha-galactosidase A

Question 11

What substrate accumulates in Fabry disease?

Answer 11

Ceramide trihexoside

Question 12

What are the clinical features of Fabry disease?

Answer 12

Angiokeratomas, Peripheral neuropathy, Cardiovascular and renal disease

Question 13

What enzyme is deficient in Krabbe disease?

Answer 13

Galactocerebrosidase

Question 14

What substrate accumulates in Krabbe disease?

Answer 14

Galactocerebroside

Question 15

What are the clinical features of Krabbe disease?

Answer 15

Severe developmental delay, Psychomotor regression, Optic atrophy, Globoid cells

Question 16

What enzyme is deficient in Hurler syndrome?

Answer 16

Alpha-L-iduronidase

Question 17

What substrate accumulates in Hurler syndrome?

Answer 17

Heparan sulfate, Dermatan sulfate

Question 18

What are the clinical features of Hurler syndrome?

Answer 18

Developmental delay, Gargoylism, Hepatosplenomegaly, Corneal clouding, Airway obstruction

Question 19

What enzyme is deficient in Hunter syndrome?

Answer 19

Iduronate-2-sulfatase

Question 20

What substrate accumulates in Hunter syndrome?

Answer 20

Heparan sulfate, Dermatan sulfate

Question 21

What are the clinical features of Hunter syndrome?

Answer 21

Mild Hurler syndrome with aggressive behavior, No corneal clouding

Question 22

What enzyme is deficient in Pompe disease?

Answer 22

Acid alpha-glucosidase (acid maltase)

Question 23

What substrate accumulates in Pompe disease?

Answer 23

Glycogen

Question 24

What are the clinical features of Pompe disease?

Answer 24

Cardiomegaly, Muscle weakness, Hypotonia, Early death due to heart failure in infantile form

Question 25

What enzyme is deficient in Zellweger syndrome?

Answer 25

Peroxisomal enzymes

Question 26

What substrate accumulates in Zellweger syndrome?

Answer 26

Very long-chain fatty acids (VLCFAs)

Question 27

What are the clinical features of Zellweger syndrome?

Answer 27

Hypotonia, Seizures, Developmental delay, Hepatomegaly, Dysmorphia

Question 28

What enzyme is deficient in Metachromatic Leukodystrophy?

Answer 28

Arylsulfatase A

Question 29

What substrate accumulates in Metachromatic Leukodystrophy?

Answer 29

Sulfatides

Question 30

What are the clinical features of Metachromatic Leukodystrophy?

Answer 30

Progressive neurodegeneration, Psychomotor regression, Ataxia, Peripheral neuropathy

Question 31

A deficiency of________________________ is the cause of Gaucher disease, an autosomal recessive lysosomal storage disease. Type I, non-neuronopathic Gaucher disease manifests with hepatosplenomegaly, bone pathology, anemia, thrombocytopenia, and growth delays.

Answer 31

A deficiency of β-glucocerebrosidase is the cause of Gaucher disease, an autosomal recessive lysosomal storage disease. Type I, non-neuronopathic Gaucher disease manifests with hepatosplenomegaly, bone pathology, anemia, thrombocytopenia, and growth delays.

Question 32

hexosaminidase

Answer 32

tay sachs

Question 33

alpha galactosidase A

Answer 33

Fabry

Question 34

Glucocerebrosidase

Answer 34

Gaucher

Question 35

sphingomyelinase

Answer 35

niemann pick

Question 36

Osteolytic bone lesions, hepatosplenomegaly, anemia, thrombocytopenia, developmental delay, and lipid-filled macrophages

Answer 36

Gaucher disease