3.1-LYSOSOMAL STORAGE DISEASES

Question 1

Disorders of Sphingolipid degradation

Answer 1

Gaucher disease
Tay-sachs disease
Sandhoff diseas
Krabbe disease
Niemann-pick disease A,B

Question 2

Disorders of Glycosaminoglycan degradation

Answer 2

Hurler syndrome (mucopolysaccharidosis I, MPS I)
Hunter syndrome (MPS II)
Maroteaux-Lamy syndrome (MPS IV)

Question 3

Disorders of Glycoprotein degradation

Answer 3

Aspartylglucosaminuria
a-Mannosidosis

Question 4

Other disorders of single enzyme deficiency

Answer 4

Pompe disease (glycogenosis II)
Wolman Disease (familial xanthomatosis)
Canavan disease (aspartoacylase deficiency)

Question 5

Disorders of lysosomal biogenesis

Answer 5

Inclusion-cell (I-cell) disease, Mucolipidosis II

Question 6

Disorders of the lysosomal membrane

Answer 6

Danon disease Cystinosis

Question 7

Protein deficient in Gaucher disease

Answer 7

Glucocerebrosidase

Question 8

Protein deficient in Tay-sachs disease

Answer 8

B-hexosaminidase, a-subunit

Question 9

Protein deficient in Sandhoff disease

Answer 9

B-hexosaminidase, B-subunit

Question 10

Protein deficient in Krabbe disease

Answer 10

Galactosylceramidase

Question 11

Protein deficient in Niemann-pick disease A,B

Answer 11

Sphingomyelinase

Question 12

Protein deficient in Aspartylglucosaminuria

Answer 12

Aspartylglycosaminidase

Question 13

Protein deficient in a-Mannosidosis

Answer 13

a-Mannosidase

Question 14

Protein deficient in Hurler syndrome (mucopolysaccharidosis I, MPS I)

Answer 14

a-L-iduronidase

Question 15

Protein deficient in Hunter syndrome (MPS II)

Answer 15

L-iduronate sulfatase

Question 16

Protein deficient in Maroteaux-Lamy syndrome (MPS IV)

Answer 16

GalNAc 4-sulfatase/arylsulfatase B

Question 17

Protein deficient in Pompe disease (glycogenosis II)

Answer 17

a-1,4-Glucosidase

Question 18

Protein deficient in Wolman Disease (familial xanthomatosis)

Answer 18

Acide lipase

Question 19

Protein deficient in Canavan disease (aspartoacylase deficiency)

Answer 19

Aspartoacylase

Question 20

Protein deficient in Inclusion-cell (I-cell) disease, Mucolipidosis II

Answer 20

GlcNAc-1-phosphotransferase (GlcNAcPTase)

Leads to defective sorting or most soluble hydrolytic lysosomal enzymes

Question 21

Protein deficient in Danon disease

Answer 21

lamp2

Question 22

Protein deficient in Cystinosis

Answer 22

cystinosin (cystine transporter)

Question 23

Accumulating product or defective process in Gaucher disease

Answer 23

Glucosylceramide

Question 24

Accumulating product or defective process in Tay-sachs disease

Answer 24

GM2 ganglioside

Question 25

Accumulating product or defective process in Sandhoff disease

Answer 25

GM2 ganglioside, oligosaccharides

Question 26

Accumulating product or defective process in Krabbe disease

Answer 26

Gal-ceramide, gal-sphingosine

Question 27

Accumulating product or defective process in Niemann-pick disease A,B

Answer 27

Sphingomyelin

Question 28

Accumulating product or defective process in Aspartylglucosaminuria

Answer 28

N-linked oligosaccharides

Question 29

Accumulating product or defective process in a-Mannosidosis

Answer 29

a-Mannosides

Question 30

Accumulating product or defective process in Hurler syndrome (mucopolysaccharidosis I, a-L-iduronidase MPS I)

Answer 30

Dermatan sulfate, heparan sulfate

Question 31

Accumulating product or defective process in Hunter syndrome (MPS II)

Answer 31

Dermatan sulfate, heparan sulfate

Question 32

Accumulating product or defective process in Maroteaux-Lamy syndrome (MPS IV)

Answer 32

Dermatan sulfate

Question 33

Accumulating product or defective process in Pompe disease (glycogenosis II)

Answer 33

Glycogen

Question 34

Accumulating product or defective process in Wolman Disease (familial xanthomatosis)

Answer 34

Cholesterol ester, triglycerides

Question 35

Accumulating product or defective process in Canavan disease (aspartoacylase deficiency)

Answer 35

N-acetylaspartic acid

Question 36

Accumulating product or defective process in Inclusion-cell (I-cell) disease, Mucolipidosis II

Answer 36

Lysosomal hydrolyses are not present in lysosomes

Question 37

Accumulating product or defective process in Cystinosis

Answer 37

Cystine

Question 38

Accumulating product or defective process in Danon disease

Answer 38

Presence of autophagic vacuoles