Biomolecular Disorders Flashcards Preview

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Flashcards in Biomolecular Disorders Deck (35):
1

High blood glucose

Diabetes

2

Diabetes:
________ or ________ to insulin

Insufficient production
No/bad cell response

3

Symptoms of diabetes

Polyuria
Polydipsia
Polyphagia

4

Frequent urinating

Polyuria

5

Frequent drinking

Polydipsia

6

Frequent hunger

Polyphagia

7

Diagnosis for diabetes

FPG tests

8

What does FPG stand for

Fasting Plasma Glucose

9

Treatment for diabetes

Regular insulin injections
Diet and exercise

10

Biomolecule involved in Galactosemia

Carbohydrates

11

Galactosemia is a disorder in the metabolism of ...

Carbohydrates

12

Galactosemia: Carb metabolism affects....

Conversion of galactose to glucose

13

Cause of Galactosemia

GALT enzyme deficiency

14

Convulsions
Irritability
Lethargy
Poor feeding and weight gain
Jaundice
Vomiting

Symptoms of Galactosemia

15

Galactosemia diagnosis

-Measure GALT levels and activity in blood
-Molec. Genetic testing on GALT gene

16

Avoid all milk and galactose for life

Galactosemia treatment

17

Biomolecule involved in Tay Sachs Disease

Lipids

18

Tay Sachs Disease is more common in ...

Infants

19

Cause of Tay Sachs Disease

Absence of Hex-A enzyme

20

Effect of absence of Hex-A: accumulation of....

GM2 ganglioside
(In brain's nerve cells)

21

Cherry Red Spots
Seizures
Difficulties in Swallowing
Progressive hearing loss and blindness
Confusion
Disorientation
Dementia
Paralysis

Tay Sachs Disease symptoms

22

Phenylketonuria cause

Absence of phenylalanine hydroxidase

23

Effect of absence of phenylalanine hydroxidase

Phenylalanine buildup

24

What organ system is affected by PKT

Central Nervous System

25

Lighter skin, hair, eyes than siblings
Mousy/musty odor

PKT symptoms

26

PKT diagnosis

Blood and urine tests

27

PKT treatment

Diet low in phenylalanine

28

Gaucher's Disease: what is lacking

Glucocerebrosidase

29

Effect of absence of glucocerebrosidase

Fat buildup in organs

30

Enlarged liver & spleen
Abdominal pain
Weakening of bones
Anemia
Chronic fatigue

Gaucher's Disease symptoms

31

Diagnosis of Maple Syrup Urine Disease and Gaucher's Disease

Newborn screening

32

Tay Sachs disease diagnosis

Blood tests for Hex-A levels

33

Tay Sachs Disease treatment

None
Specific to symptoms

34

Maple Syrup Urine Disease treatment

Protein-free diet

35

Gaucher's Disease treatment

Therapy