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Flashcards in Storage diseases Deck (18):
1

Von Gierke disease (type one)

Glycogen Storage Disease ; AR
Deficient Enzyme: Glucose-6-phosphatase
Findings: Hepatomegaly, Severe fasting hypoglycemia, ^^ glycogen in live, ^ blood lactate + triglycerides and uric acid

2

Pompe disease (type 2)

Glycogen Storage Disease ; AR
Deficient Enzyme: Lysosomal a-1,4 glucosidase (acid maltase)
Findings: Cardiomegaly, hypertrophic cardiomyopathy, exercise intolerance

3

Cori disease (type 3)

Glycogen Storage Disease ; AR
Deficient Enzyme: Debranching enzyme (a-1,6-glucosidase)
Findings: Milder form of type I (Von Gierke disease) with normal lactate levels

4

McArdle disease (type 5)

Glycogen Storage Disease ; AR
Deficient Enzyme: Skeletal muscle glycogen phosphorylase ( myophosphorylase)
Findings: ^ glycogen in muscle, but cannot break it down -> painful muscle cramps, myoglobinuria (red urine) with exercise and arrhythmia from electrolyte abnormalities

5

Fabry disease

Lysosomal storage disease- Sphingolipidoses -XR
Deficient Enzyme: a-galactosidase A
Accumulated Substrate: Ceramide trihexoside
Findings: Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease

6

Gaucher disease

Lysosomal storage disease- Sphingolipidoses -AR
Deficient Enzyme: Glucocerebrosidase (B-glucosidase)
Accumulated Substrate: Glucocerebroside ( in phagocytes)
Findings: Most common, Hepatosplenomegaly, pancytopenia, aseptic nevrosis of femur/ bone crises, Gaucher cells ( lipid-laden macrophages resembling crumpled tissue paper)

7

Niemann-Pick Disease

Lysosomal storage disease- Sphingolipidoses -AR
Deficient Enzyme: Sphingomyelinase
Accumulated Substrate: Sphingomyelin ( in phagocytes)
Findings: Progressive neurodegeneration, hepatosplenomegaly, foam cells ( lipid-laden macrophages), "cherry red" spot on macula

8

Tay-Sachs disease

Lysosomal storage disease- Sphingolipidoses -AR
Deficient Enzyme: Hexosaminidase A
Accumulated Substrate: GM2 ganglioside
Findings: Progressive neurodegeneration, developmental delay, "cherry-red" spot on maculate, lysosome with onion skin, NO HEPATOSPLENOMEGALY

9

Krabbe disease

Lysosomal storage disease- Sphingolipidoses -AR
Deficient Enzyme: Galactocerebrosidase
Accumulated Substrate: Galactocerebroside, psychosine
Findings: Peripheral neuropathy, developmental delay, optic atrophy, globoid cells

10

Metachromatic leukodystrophy

Lysosomal storage disease- Sphingolipidoses -AR
Deficient Enzyme: Arylsulfatase A
Accumulated Substrate: Cerebroside sulfate
Findings: Central and peripheral demyelination with ataxia, dementia

11

Hurler syndrome

Lysosomal storage disease- Mucopolysaccharidoses-AR
Deficient Enzyme: a-l-iduronidase
Accumulated Substrate: Heparan sulfate, dermatan sulfate
Findings: Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly

12

Hunter syndrome

Lysosomal storage disease- Mucopolysaccharidoses-XR
Deficient Enzyme: Iduronate sulfatase
Accumulated Substrate: Heparan sulfate, dermatan sulfate
Findings: Mild Hurler + aggressive behavior, no corneal clouding

13

" Cherry-red" spots on macula

Tay-Sachs - NO hepatosplenomegaly
Niemann-Pick- hepatosplenomegaly

14

Hepatosplenomegaly

Hurler - a-L-iduronidase( hep/dermantan sulfate) - corneal clouding
Hunter - Iduronate sulfatase (hep/dermatan sulfate) - non corneal clouding
Nieman pick - sphingomyelinase (sphingomyelin) - Progressive neurodegeneration
Gaucher- Glucocerebrosidase (glucocerebroside) - bone crises

15

Hepatomegaly

Von Gierke (type 1) - Glucose-6-phosphatase
Cori disease(type 3)- Debranching enzyme (a-1,6-glucosidase)

16

Type 1, 2, 3, 5 Glucogen storage diseses

Type 1 - Von Gierke disease - glucose-6-phosphatase
Type 2- Pompe- acid maltase
Type 3- Cori - a-1,6-glucosidase
Type 5- McArdle -myophosphorylase

17

Sphingolipidoses

Fabry - a-galactosidase A - Ceramide trihexoside
Gaucher - B-glucosidase - glucocerebroside
Niemann-Pick - Sphingomyelinase - Sphingomyelin
Tay-Sachs - Hexosaminidase A - GM2 ganglioside
Krabbe - Galactocerebrosidase - Galactocerebroside, psychosine
Metachromatic leukodystrophy- Arylsulfatse A - Cerebroside sulfate

18

Mucopolysaccharidoses

Hurler syndrome - a-L-iduronidase - Heparan + dermatan sulfate
Hunter - Iduronate sulfatase - Heparan +dermatan sulfate