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Flashcards in Genetic diseases Deck (70)
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1

A group of disease when there is an increase accumulation of the metabolite which would have otherwise degraded by the presence of normal levels of specific enzyme.

Lysosomal storage disease

2

Enzyme deficient in Gaucher's disease.

Glucocerebrosidase

3

Metabolite that accumulates in Gaucher's disease.

Glucocerebroside

4

Enzyme deficient in Tay-Sachs disease.

Hexaminidase

5

Metabolite that accumulates in Tay-sachs disease.

Ganglioside

6

Enzyme deficient in niemman-pick

Sphingomyelinase

7

Metabolite that accumulates in niemman-pick disease.

Sphingomyelin

8

Enzyme deficient in Fabry disease.

Alpha-galactoseidase

9

Metabolite that accumulates in Fabry disease.

Globotriaosylceramide

10

What is the pathognomonic sign of Tay-sach?

Cherry red spotin retina

11

Patient with Tay-sach's disease usually lives until?

4 years old :(

12

Other name of Tay-sachs

Gangliosidosis

13

A group of disease with deficient enzyme involved in either glycogen production or degradation in the liver.

Glycogen storage disease

14

Organ commonly affected by Glycogen storage disease

Liver

15

Disease deficient in Glucose-6-phosphatase

Type 1- Von Gierke's

16

Disease deficient in Acid maltase

Type II- Pompe's disease

17

Disease deficient in glycogen debrancher

Type III- Cori's disase

18

Disease deficient in glycogen branching enzyme

Type IV- Andersen's disease

19

Disease deficient in muscle glycogen phosphorylase

Type V- McArdle

20

Disease deficient in Liver glycogen phosphorylase

Type VI- Hers

21

Disease deficient in Muscle phosphofructokinase

Type-VII Tarui's

22

Syndrome where there is abnormal production of uric acid due to recycling of purinesin the body.

Lesch-nyhan syndrome

23

Deficient enzyme in Lesch-nyhan syndrome

Hypoxanthine Guanine Phosphoribosyl Transferase (HGPRT)

24

Syndrome defective in FIBRILLIN type 1

Marfan syndrome

25

Clinical manifestation of Marfan syndrome

Tall stature with deformed sternum
Joints that can hyperextend
Cardiovascular defects

26

Most common cardiovascular defect associated with marfan syndrome

Cystic medial necrosis of the aorta

27

Pectus excavatumis found in?

Marfan syndrome

28

This disease has a defective collagen type 3 that affects the connective tissue

Ehler-Danlos syndrome

29

Complication in Ehler-Danlos syndrome

Rupture in major organs and vessels
Rupture of the eyeball
Rupture of membrane during pregnancy
Arthritis
Joint pain

30

Number one complicatin of ehler-danlos syndrome

Aneurysm