Biomolecular Disorders

Question 1

High blood glucose

Answer 1

Diabetes

Question 2

Diabetes:

________ or ________ to insulin

Answer 2

Insufficient production

No/bad cell response

Question 3

Symptoms of diabetes

Answer 3

Polyuria
Polydipsia
Polyphagia

Question 4

Frequent urinating

Answer 4

Polyuria

Question 5

Frequent drinking

Answer 5

Polydipsia

Question 6

Frequent hunger

Answer 6

Polyphagia

Question 7

Diagnosis for diabetes

Answer 7

FPG tests

Question 8

What does FPG stand for

Answer 8

Fasting Plasma Glucose

Question 9

Treatment for diabetes

Answer 9

Regular insulin injections

Diet and exercise

Question 10

Biomolecule involved in Galactosemia

Answer 10

Carbohydrates

Question 11

Galactosemia is a disorder in the metabolism of …

Answer 11

Carbohydrates

Question 12

Galactosemia: Carb metabolism affects….

Answer 12

Conversion of galactose to glucose

Question 13

Cause of Galactosemia

Answer 13

GALT enzyme deficiency

Question 14

Convulsions
Irritability
Lethargy
Poor feeding and weight gain
Jaundice
Vomiting

Answer 14

Symptoms of Galactosemia

Question 15

Galactosemia diagnosis

Answer 15

• Measure GALT levels and activity in blood

- Molec. Genetic testing on GALT gene

Question 16

Avoid all milk and galactose for life

Answer 16

Galactosemia treatment

Question 17

Biomolecule involved in Tay Sachs Disease

Answer 17

Lipids

Question 18

Tay Sachs Disease is more common in …

Answer 18

Infants

Question 19

Cause of Tay Sachs Disease

Answer 19

Absence of Hex-A enzyme

Question 20

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

Answer 20

GM2 ganglioside

In brain’s nerve cells

Question 21

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

Answer 21

Tay Sachs Disease symptoms

Question 22

Phenylketonuria cause

Answer 22

Absence of phenylalanine hydroxidase

Question 23

Effect of absence of phenylalanine hydroxidase

Answer 23

Phenylalanine buildup

Question 24

What organ system is affected by PKT

Answer 24

Central Nervous System

Question 25

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

Answer 25

PKT symptoms

Question 26

PKT diagnosis

Answer 26

Blood and urine tests

Question 27

PKT treatment

Answer 27

Diet low in phenylalanine

Question 28

Gaucher's Disease: what is lacking

Answer 28

Glucocerebrosidase

Question 29

Effect of absence of glucocerebrosidase

Answer 29

Fat buildup in organs

Question 30

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

Answer 30

Gaucher's Disease symptoms

Question 31

Diagnosis of Maple Syrup Urine Disease and Gaucher's Disease

Answer 31

Newborn screening

Question 32

Tay Sachs disease diagnosis

Answer 32

Blood tests for Hex-A levels

Question 33

Tay Sachs Disease treatment

Answer 33

None | Specific to symptoms

Question 34

Maple Syrup Urine Disease treatment

Answer 34

Protein-free diet

Question 35

Gaucher's Disease treatment

Answer 35

Therapy