Biochem - Metabolism (Lysosomal storage diseases) Flashcards Preview

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Flashcards in Biochem - Metabolism (Lysosomal storage diseases) Deck (33):
1

In general, what causes lysosomal storage diseases? What general effect do they have?

Each is caused by deficiency in one of the many lysosomal enzymes. Results in an accumulation of abnormal metabolic products.

2

What are 2 major categories of lysosomal storage diseases?

(1) Sphingolipodoses (2) Mucopolysaccharidoses

3

Name 6 examples of sphingolipodoses.

(1) Fabry disease (2) Gaucher disease (3) Niemann-Pick disease (4) Tay-Sachs disease (5) Krabbe disease (6) Metachromatic leukodystrophy

4

Name 2 Mucopolysaccharidoses.

(1) Hurler syndrome (2) Hunter syndrome

5

What are 3 clinical findings of Fabry disease?

(1) Peripheral neuropathy of hands/feet, (2) angiokeratomas, (3) cardiovascular/renal disease

6

What are the deficient enzyme and accumulated substrate in Fabry disease?

DEFICIENT ENZYME: alpha-galactosidase A; ACCUMULATED SUBSTRATE: ceramide trihexoside

7

What is the mode of inheritance for Fabry disease?

XR

8

What is the most common lysosomal storage disease?

Gaucher disease

9

What are 5 clinical findings of Gaucher disease?

(1) Hepatosplenomegaly, (2) Pancytopenia, (3) Aseptic necrosis of femur, (4) Bone crises, (5) Gaucher cells (lipid-laden macrophages resembling crumpled tissue paper)

10

What is the treatment for Gaucher disease?

Treatment is recombinant glucocerebrosidase

11

What are Gaucher cells, and how do they appear on histology?

Gaucher cells (lipid-laden macrophages resembling crumpled tissue paper)

12

What are the deficient enzyme and accumulated substrate in Gaucher disease?

DEFICIENT ENZYME: Glucocerebrosidase (Beta-glucosidase); ACCUMUALTED SUBSTRATE: Glucocerebroside

13

What is the mode of inheritance of Gaucher disease?

AR

14

What are 4 clinical findings of Niemann-Pick disease?

(1) Progressive neurodegeneration, (2) Hepatosplenomegaly, (3) "Cherry-red" spot on macula, (4) Foam cells (lipid-laden macrophages)

15

What are the deficient enzyme and accumulated substrate in Niemann-Pick disease?

DEFICIENT ENZYME: Sphingomyelinase; ACCUMULATED SUBSTRATE: Sphingomyelin; Think: "NO MAN PICKS (Niemann-Pick) his nose with his SPHINGer (Sphingomyelinase)."

16

What is the mode of inheritance for Niemann-Pick disease?

AR

17

What are 4 clinical findings of Tay-Sachs disease? What negative clinical finding distinguishes Tay-Sachs from another lysosomal storage disorder, and what is that disorder?

(1) Progressive neurodegeneration, (2) Developmental delay, (3) "cherry-red" spot on macula, (4) lysosomes with onion skin; No hepatomegaly (vs. Niemann-Pick)

18

What are the deficient enzyme and accumulated substrate in Tay-Sachs disease?

DEFICIENT ENZYME: Hexosaminidase A; ACCUMULATED SUBSTRATE: GM2 ganglioside; Think: "Tay-SaX lacks heXosaminidase"

19

What is the mode of inheritance for Tay-Sachs disease?

AR

20

What are 4 clinical findings of Krabbe disease?

(1) Peripheral neuropathy (2) Developmental delay (3) Optic atrophy (3) Globoid cells

21

What are the deficient enzyme and accumulated substrate(s) in Krabbe disease?

DEFICIENT ENZYME: Glactocerebrosidase; ACCUMULATED SUBSTRATE(S): Galactocerebroside, Psychosine

22

What is the mode of inheritance for Krabbe disease?

AR

23

What are 2 clinical findings of Metachromatic leukodystrophy?

(1) Central and peripheral demyelination with ataxia, (2) Dementia

24

What are the deficient enzyme and accumulated substrate in Metachromatic leukodystrophy?

DEFICIENT ENZYME: Arylsulfatase A; ACCUMULATED SUBSTRATE: Cerebroside sulfate

25

What is the mode of inheritance for Metachromatic leukodystrophy?

AR

26

What are 5 clinical findings of Hurler syndrome?

(1) Developmental delay, (2) Gargoylism, (3) Airway obstruction, (4) Corneal clouding, (5) Hepatosplenomegaly

27

What are the deficient enzyme and accumulated substrate

DEFICIENT ENZYME: Alpha-L-iduronidase; ACCUMULATED SUBSTRATE: Heparan sulfate, Dermatan sulfate

28

What is the mode of inheritance of Hurler syndrome?

AR

29

What are 2 clinical findings of Hunter syndrome? What negative clinical finding helps to distinguish it from another lysosomal storage disorder, and what disorder is that?

(1) Mild Hurler (which is characterized clinically by development delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly) + (2) aggressive behavior; No corneal clouding (v. Hurler syndrome); Think: "HUNTERs see clearly (no corneal clouding) and aggressively aim for the X (X-linked recessive)"

30

What are the deficient enzyme and accumulated substrate in Hunter syndrome?

DEFICIENT ENZYME: Iduronate sulfatase; ACCUMULATED SUBSTRATE: Heparan sulfate, Dermatan sulfate

31

What is the mode of inheritance for Hunter syndrome?

XR; Think: "HUNTERS see clearly (no corneal clouding) and aggressively aim for the X (X-linked recessive)."

32

Draw a diagram depicting the metabolic steps blocked by the 6 major sphingolipidoses.

See p. 114 in First Aid 2014 for visual at bottom of page

33

In what patient population do Tay-Sachs, Niemann-Pick, and some forms of Gaucher disease have an increased incidence?

Increased incidence of Tay-Sachs, Niemann-Pick, and some forms of Gaucher disease in Ashkenazi Jews.

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