Biomolecular Disorders Flashcards

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1
Q

High blood glucose

A

Diabetes

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2
Q

Diabetes:

________ or ________ to insulin

A

Insufficient production

No/bad cell response

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3
Q

Symptoms of diabetes

A

Polyuria
Polydipsia
Polyphagia

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4
Q

Frequent urinating

A

Polyuria

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5
Q

Frequent drinking

A

Polydipsia

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6
Q

Frequent hunger

A

Polyphagia

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7
Q

Diagnosis for diabetes

A

FPG tests

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8
Q

What does FPG stand for

A

Fasting Plasma Glucose

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9
Q

Treatment for diabetes

A

Regular insulin injections

Diet and exercise

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10
Q

Biomolecule involved in Galactosemia

A

Carbohydrates

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11
Q

Galactosemia is a disorder in the metabolism of …

A

Carbohydrates

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12
Q

Galactosemia: Carb metabolism affects….

A

Conversion of galactose to glucose

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13
Q

Cause of Galactosemia

A

GALT enzyme deficiency

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14
Q
Convulsions
Irritability
Lethargy
Poor feeding and weight gain
Jaundice
Vomiting
A

Symptoms of Galactosemia

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15
Q

Galactosemia diagnosis

A
  • Measure GALT levels and activity in blood

- Molec. Genetic testing on GALT gene

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16
Q

Avoid all milk and galactose for life

A

Galactosemia treatment

17
Q

Biomolecule involved in Tay Sachs Disease

A

Lipids

18
Q

Tay Sachs Disease is more common in …

A

Infants

19
Q

Cause of Tay Sachs Disease

A

Absence of Hex-A enzyme

20
Q

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

A

GM2 ganglioside

In brain’s nerve cells

21
Q
Cherry Red Spots
Seizures
Difficulties in Swallowing
Progressive hearing loss and blindness
Confusion
Disorientation
Dementia
Paralysis
A

Tay Sachs Disease symptoms

22
Q

Phenylketonuria cause

A

Absence of phenylalanine hydroxidase

23
Q

Effect of absence of phenylalanine hydroxidase

A

Phenylalanine buildup

24
Q

What organ system is affected by PKT

A

Central Nervous System

25
Q

Lighter skin, hair, eyes than siblings

Mousy/musty odor

A

PKT symptoms

26
Q

PKT diagnosis

A

Blood and urine tests

27
Q

PKT treatment

A

Diet low in phenylalanine

28
Q

Gaucher’s Disease: what is lacking

A

Glucocerebrosidase

29
Q

Effect of absence of glucocerebrosidase

A

Fat buildup in organs

30
Q
Enlarged liver & spleen
Abdominal pain
Weakening of bones
Anemia
Chronic fatigue
A

Gaucher’s Disease symptoms

31
Q

Diagnosis of Maple Syrup Urine Disease and Gaucher’s Disease

A

Newborn screening

32
Q

Tay Sachs disease diagnosis

A

Blood tests for Hex-A levels

33
Q

Tay Sachs Disease treatment

A

None

Specific to symptoms

34
Q

Maple Syrup Urine Disease treatment

A

Protein-free diet

35
Q

Gaucher’s Disease treatment

A

Therapy