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Biology (Semester 1) > Conditions > Flashcards

Conditions Flashcards

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1
Q

Which condition is characterised by a lack of Hex-A

A

Tay-Sachs

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2
Q

Which condition is characterised by a build up of Ganglioside GM2 in nerve cells

A

Tay-Sachs

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3
Q

Which condition is characterised by blindness, muscle rigidity, seizures, death before 4 years

A

Tay-Sachs

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4
Q

Which organelle does Tay-Sachs affect?

A

Lysosomes

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5
Q

Place in order of severity:

  • Hurler-Scheie
  • Hurler
  • Scheie
A

Most severe: Hurler
Then: Hurler-Scheie
Least Severe: Scheie

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6
Q

Which condition is this?:

Progressive, severe developmental delay, severe respiratory disease, abnormal bone structure, death before 10 years

A

Hurler Syndrome

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7
Q

Which condition is this?:

Little or no intellectual defect, moderate respiratory disease, cardiovascular disease, death in teens and 20’s

A

Hurler-Scheie

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8
Q

Which condition is this?:

Normal intelligence, corneal clouding, joint stiffness, valvular heart disease, death in later decades

A

Scheie

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9
Q

Lack of which enzyme characterises Niemann-Pick disease?

A

Acid Sphingomyelinase (ASM)

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10
Q

Which condition is this?:

Build up of sphingomyelin causes necrosis

A

Niemann-Pick

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11
Q

Which condition is this?:

Hexosaminidase-A absent from lysosomes

A

Tay-Sachs

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12
Q

Which condition is this?:

Dislocation of the lenses in the eyes, near sightedness, abnormal blood clots, osteoporosis, learning disabilities, developmental problems

A

Homocystinuria

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13
Q

What enzyme is affected by Homocystinuria?

A

Cystathionine beta-synthase (CBS)

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14
Q

What role does cystathionine beta-synthase usually playh in the body?

A

Converts homocysteine to cystathionine

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15
Q

In patients with homocystinuria, what is produced instead of cystathionine?

A

Other amino acids, including methionine, plus toxic by-products that build up in the blood

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16
Q

Which of the following disorders causes severe mental developmental delay?

A) Scheie syndrome
B) Niemann-Pick disease
C) Hurler syndrome
D) Homocystinuria

A

C) Hurler syndrome

17
Q

Which enzyme is missing in patients with Tarui disease?

A

Photofructinase (PFK)

18
Q

Which disease results in Myoglobinuria? What symptoms will be present?

A

Tarui disease. Symptoms include rust-coloured urine, pain, muscle cramps

19
Q

What chemical will be elevated in the blood of Tarui patients? Why?

A

Bilirubin - This is found in red blood cells but is released into the blood when deficiency in PFK leads to haemolysis of RBC’s

20
Q

Lactic acidosis (build up of lactic acid) is characteristic of which condition?

A

Pyruvate dehydrogenase deficiency

21
Q

What are the symptoms associated with pyruvate dehydrogenase deficiency?

A

Nausea, vomiting, sever respiratory problems, abnormal heartbeat, neurological disorders, delayed mental development, delayed motor development, mortality in childhood

22
Q

Which condition means the iron in the redblood cells is ferric instead of ferrous?

A

Methemoglobinaemia.

23
Q

Which is ferric and which is ferrous?
A) Fe2+
B) Fe3+

A

Fe2+ is ferrous
Fe3+ is ferric

(Fe3+ is bad news)

24
Q

What is used to treat Methemoglobinaemia?

A

Methylene Blue

25
Q

Zellweger Syndrome is what kind of disorder?

A

Peroxisomal disorder

26
Q

What is the mortality rate of a person with Zellweger syndrome?

A

Up to 1 year

27
Q

Which peroxisomal disorder is fatal within 10 years?

A

Neonatal adrenoleukodystrophy (NALD)

28
Q

What is the life expectancy of someone with severe rhizomelic chondrodysplasia punctata (RCDP)?

A

Up to 2 years

29
Q

If someone finds that eating a carb-rich meal worsens their capacity for exercise, which disorder might they have?

A

Tarui disease - carb-rich meals will lower the level of fats in their blood, which are the major muscle energy fuels for Tarui sufferers

30
Q

Which condition is sex linked?

A

Pyruvate dehydrogenase deficiency

31
Q

Which enzyme is absent in Hurlers?

A

Iduronidase

32
Q

What does iduronidase normally do?

A

Digest glycosaminoglycans

33
Q

What chemical builds up and damages organs in patients with Hurler’s?

A

Heparan Sulphate

Biology (Semester 1) (10 decks)

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