Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Pathology A > A/50 > Flashcards

A/50 Flashcards

1
Q

What are 5 examples of AR disorders

A
  • CF
  • Phenylketonuria
  • Tay-sachs disease
  • alpha and beta thalassemias
  • Sickle cell anemia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is the abnormal protein in phenylketonuria?

A

lack of phenylalanine hydroxylase enzyme

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is the abnormal protein in Tay Sachs disease?

A

hexosaminidase beta subunit

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is the prevalence of phenylketonuria?

A

1 / 10 000

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Signs of phenylketonuria (5)

A
  • increasing serum phenylalanine levels after 1-2 weeks
  • mental retardation
  • seizures
  • neurological abnormalities
  • decreased skin pigmentation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

How can PKU be avoided?

A

By restricting consumption of phenylalanine (milk, eggs, chicken)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What is the biochemical explanation for PKU?

A

Without enzyme, cannot convert phenylalanine to tyrosine, so it produces many intermediates from other pathways

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Why is there light pigmentation in PKU?

A

Because tyrosine is a melanin precursor

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is the prevalence of galactosemia?

A

1 / 60 000

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What enzyme is missing in galactosemia?

A

GALT (galactose 1 phosphate uridyltransferase)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Result of missing enzyme in galactosemia?

A

Galactose 1P accumulation in all tissues

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Anatomical changes in galactosemia

A
  • early onset hepatomegaly
  • jaundice
  • cirrhosis
  • cataracts
  • loss of nerve cells
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

How to treat galactosemia?

A

Removing galactose from the diet for the first 2 years of life

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What does the lack of enzyme cause in Tay Sachs disease?

A

Gangliosidosis : accumulation of gangliosides

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Which cells are the most affected in Tay Sachs disease?

A

CNS cells : neurons, axons, glial cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What happens to the cells in Tay Sachs disease?

A

they become swollen / foamy

17
Q

What are the symptoms of Tay Sachs disease?

A
  • mental retardation
  • blindness
  • motor weakness
  • death by 2/3
18
Q

4 types of glycogen storage diseases

A
  • Hepatic type (e.g : type 1, Vongierke)
  • Myopathic type (e.g type 5, McArdle’s)
  • Miscellaneous type (e.g type 2, Pompe)
19
Q

3 examples of X-linked disorders

A
  • Hemophilia A
  • Duchenne muscular distrophy
  • Fragile X syndrome
20
Q

Abnormal protein in hemophilia A

A

Factor VIII

21
Q

Abnormal protein ini duchenne muscular distrophy

A

Dystrophin

22
Q

What is the genetic issue in fragile X syndrome?

A

upwards of 4000 tandem repeats of CGG in the FMR1 gene

23
Q

Anatomical changes in fragile X syndrome (3)

A
  • mental retardation
  • macroorchidism
  • abnormal facial features

Pathology A (43 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions