Metabolic Diseases Flashcards

0
Q

What accumulates in neurons in neuronal ceroid lipofuscinoses?

A

Lipofuscin.

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1
Q

What enzyme is deficient in Neuronal Ceroid Lipofuscinoses?

A

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

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2
Q

What is the result of lipofuscin buildup?

A

Blindness, mental and motor degeneration, seizures

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3
Q

What age does neuronal ceroid lipofuscinosis onset?

A

childhood to adulthood

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4
Q

What enzyme is deficient in Taye-Sachs disease?

A

Hexosaminadase

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5
Q

The enzyme deficiency in Taye Sachs results in…

A

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

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6
Q

When is TSD detected?

A

Very early in life, die very early, too

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7
Q

What is the progression of the disease?

A

Developmental delay, paralysis, loss of neurologic function

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8
Q

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

A

cherry red spot in retina

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9
Q

Leukodystrophies take place where?

A

In white matter. Myelin is affected

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10
Q

Krabbe disease is a deficiency in what enzyme?

A

Galactosylceramidase

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11
Q

Krabbe disease results in a buildup of…

which is toxic because…

A

galactocerebroside

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

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12
Q

Krabbe disease results in the gross loss of…

A

myelin in the peripheral nerves

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13
Q

What cells in the brain are indicative of Krabbe disease?

A

Globoid cells (fat macrophages)

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14
Q

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

A

3-6 months, rapidly progressive muscle stiffness and weakness

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15
Q

What vitamin deficiency is often associated with alcohol abuse?

A

B1 (thiamine)

16
Q

Thiamine deficiency causes both…

A

Wernicke encephalopathy and Korsakoff syndrome

17
Q

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

A

mammilary bodies and walls of 3rd and 4th ventricles

18
Q

Wernicke encephalopathy is characterized by…

A

Confusion, ataxia, ophthalmoplegia

19
Q

Of Wernicke encephalopathy and Karsakoff syndrome, which is reversible?

A

Wern Enceph

20
Q

Korsakoff syndrome is characterized by…

A

Memory disturbances and confabulation

21
Q

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

A

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

22
Q

Vitamin B12 deficiency can result in…

A

Anemia and spinal cord subacute degeneration

23
Q

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

A

Lower extremity numbness, weakness, ataxia

24
Q

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

A

Paraplegia

25
Q

What histological problem is observed in B12 deficiency?

A

Myelin swelling, vacuolization

26
Q

What cells and brain areas are most susceptible to hypoglycemia?

A

Large pyramidal neurons of the cortex, cerebellum and hipocampus

27
Q

What areas are most susceptible to carbon monoxide poisoning?

A

cortex, hippocampus, and purkinje cells.

28
Q

Methanol preferentially attacks the… and degenerates the…

A

retina, ganglion cells

29
Q

Ethanol preferentially attacks the…

A

cerebellum