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Flashcards in Metabolic Diseases Deck (30)
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0

What enzyme is deficient in Neuronal Ceroid Lipofuscinoses?

Not sure, but has to do with protein modification/degradation.

1

What accumulates in neurons in neuronal ceroid lipofuscinoses?

Lipofuscin.

2

What is the result of lipofuscin buildup?

Blindness, mental and motor degeneration, seizures

3

What age does neuronal ceroid lipofuscinosis onset?

childhood to adulthood

4

What enzyme is deficient in Taye-Sachs disease?

Hexosaminadase

5

The enzyme deficiency in Taye Sachs results in...

a buildup of ganglioside in the lysosomes, so eventually it kills the neurons.

6

When is TSD detected?

Very early in life, die very early, too

7

What is the progression of the disease?

Developmental delay, paralysis, loss of neurologic function

8

What anatomical observation can be made in a patient with TSD?

cherry red spot in retina

9

Leukodystrophies take place where?

In white matter. Myelin is affected

10

Krabbe disease is a deficiency in what enzyme?

Galactosylceramidase

11

Krabbe disease results in a buildup of...
which is toxic because...

galactocerebroside
It's not that which is toxic, its the natural byproduct

12

Krabbe disease results in the gross loss of...

myelin in the peripheral nerves

13

What cells in the brain are indicative of Krabbe disease?

Globoid cells (fat macrophages)

14

What is the age of onset and disease progression for krabbe disease?

3-6 months, rapidly progressive muscle stiffness and weakness

15

What vitamin deficiency is often associated with alcohol abuse?

B1 (thiamine)

16

Thiamine deficiency causes both...

Wernicke encephalopathy and Korsakoff syndrome

17

Wernicke Encephelopathy is characterized by the degeneration of what brain structure?

mammilary bodies and walls of 3rd and 4th ventricles

18

Wernicke encephalopathy is characterized by...

Confusion, ataxia, ophthalmoplegia

19

Of Wernicke encephalopathy and Karsakoff syndrome, which is reversible?

Wern Enceph

20

Korsakoff syndrome is characterized by...

Memory disturbances and confabulation

21

Korsakoff syndrome can be characterized by what histological/gross defects in the brain?

Cystic spaces, hemosiderin-laden macrophages in mammillary bodies, ventricle walls, as well as thalmic lesions

22

Vitamin B12 deficiency can result in...

Anemia and spinal cord subacute degeneration

23

Spinal cord degeneration due to B12 deficiency can manifest in what way?

Lower extremity numbness, weakness, ataxia

24

What marks the point when spinal cord damage due to B12 deficiency is irreversible?

Paraplegia

25

What histological problem is observed in B12 deficiency?

Myelin swelling, vacuolization

26

What cells and brain areas are most susceptible to hypoglycemia?

Large pyramidal neurons of the cortex, cerebellum and hipocampus

27

What areas are most susceptible to carbon monoxide poisoning?

cortex, hippocampus, and purkinje cells.

28

Methanol preferentially attacks the... and degenerates the...

retina, ganglion cells

29

Ethanol preferentially attacks the...

cerebellum