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Histology > 3.1-LYSOSOMAL STORAGE DISEASES > Flashcards

3.1-LYSOSOMAL STORAGE DISEASES Flashcards

1
Q

Disorders of Sphingolipid degradation

A

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

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2
Q

Disorders of Glycosaminoglycan degradation

A

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

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3
Q

Disorders of Glycoprotein degradation

A

Aspartylglucosaminuria
a-Mannosidosis

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4
Q

Other disorders of single enzyme deficiency

A

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

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5
Q

Disorders of lysosomal biogenesis

A

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

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6
Q

Disorders of the lysosomal membrane

A

Danon disease Cystinosis

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7
Q

Protein deficient in Gaucher disease

A

Glucocerebrosidase

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8
Q

Protein deficient in Tay-sachs disease

A

B-hexosaminidase, a-subunit

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9
Q

Protein deficient in Sandhoff disease

A

B-hexosaminidase, B-subunit

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10
Q

Protein deficient in Krabbe disease

A

Galactosylceramidase

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11
Q

Protein deficient in Niemann-pick disease A,B

A

Sphingomyelinase

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12
Q

Protein deficient in Aspartylglucosaminuria

A

Aspartylglycosaminidase

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13
Q

Protein deficient in a-Mannosidosis

A

a-Mannosidase

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14
Q

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

A

a-L-iduronidase

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15
Q

Protein deficient in Hunter syndrome (MPS II)

A

L-iduronate sulfatase

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16
Q

Protein deficient in Maroteaux-Lamy syndrome (MPS IV)

A

GalNAc 4-sulfatase/arylsulfatase B

17
Q

Protein deficient in Pompe disease (glycogenosis II)

A

a-1,4-Glucosidase

18
Q

Protein deficient in Wolman Disease (familial xanthomatosis)

A

Acide lipase

19
Q

Protein deficient in Canavan disease (aspartoacylase deficiency)

A

Aspartoacylase

20
Q

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

A

GlcNAc-1-phosphotransferase (GlcNAcPTase)

Leads to defective sorting or most soluble hydrolytic lysosomal enzymes

21
Q

Protein deficient in Danon disease

A

lamp2

22
Q

Protein deficient in Cystinosis

A

cystinosin (cystine transporter)

23
Q

Accumulating product or defective process in Gaucher disease

A

Glucosylceramide

24
Q

Accumulating product or defective process in Tay-sachs disease

A

GM2 ganglioside

25
Q

Accumulating product or defective process in Sandhoff disease

A

GM2 ganglioside, oligosaccharides

26
Q

Accumulating product or defective process in Krabbe disease

A

Gal-ceramide, gal-sphingosine

27
Q

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

A

Sphingomyelin

28
Q

Accumulating product or defective process in Aspartylglucosaminuria

A

N-linked oligosaccharides

29
Q

Accumulating product or defective process in a-Mannosidosis

A

a-Mannosides

30
Q

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

A

Dermatan sulfate, heparan sulfate

31
Q

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

A

Dermatan sulfate, heparan sulfate

32
Q

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

A

Dermatan sulfate

33
Q

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

A

Glycogen

34
Q

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

A

Cholesterol ester, triglycerides

35
Q

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

A

N-acetylaspartic acid

36
Q

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

A

Lysosomal hydrolyses are not present in lysosomes

37
Q

Accumulating product or defective process in Cystinosis

A

Cystine

38
Q

Accumulating product or defective process in Danon disease

A

Presence of autophagic vacuoles

Histology (15 decks)

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