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Flashcards in Block 1 Deck (18)
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1
Q

Generalized ganliosidosis

A

B-galactosidase, GM1 accumulates

2
Q

Tay-Sachs disease

A

Hexosaminidase A, GM2 accumulates

3
Q

Sandhoff’s disease

A

Hexosaminidase A and B, Globoside accumulates

4
Q

Fabry’s disease

A

a-galactosidase A, Ceramide-Glu-Gal-Gal

5
Q

Gaucher’s disease

A

glucocerebrosidase, Ceramide-Glu accumulates

6
Q

Niemann-Pick disease

A

Spingomyelinase, sphingomyelin accumulates

7
Q

MPS I

A

(Hurler) alpha-iduronidase, Heparan sulfate / dermatan sulfate accumulate

8
Q

MPS II

A

(Hunter) iduronate sulfatase, Heparan sulfate / dermatan sulfate accumulate

9
Q

Corneal clouding, coarse face, boney spine changes (dystosis multiplex), leaky heart valves

A

MPS1

10
Q

No corneal clouding, coarse face, hearing problems, frontal bossing

A

MPSII

11
Q

Pompe

A

alpha-1,4-glucosidase, lysosomal glycogen accumulates

12
Q

Hypotonia, cardiomyopathy, macroglossia, can’t hold head up

A

Pompe

13
Q

ischemic disease, burning pains in hand and feet, angiokeratomas

A

Fabry’s

14
Q

Anemia, low platelets (thrombocytopenia), huge hepatosplenomegaly,
bone diseases

A

Gaucher’s

15
Q

Child loose milestones of development (initially learns, but later regression starting at 6-8months), hypersensitive to sound ie hyperacusis; eventually blindness; seizures.

A

Tay-Sachs

16
Q

maltose

A

glucose + glucose

17
Q

sucrose

A

glucose + fructose

18
Q

lactose

A

glucose + galactose