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Genetic Metabolic Diseases Flashcards

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1
Q

Leukodystrophies involve abnormalities in?

A

Myelin abnormalities – white matter involvement of the brain

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2
Q

Leukodystrophies involve abnormalities in?

A

Myelin abnormalities – white matter involvement

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3
Q

What enzyme is deficient with Krabbe Disease (leukodystrophy)?

A

Galactocerebroside B-Galactosidase

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4
Q

Krabbe disease (leukodystrophy) uses an alternate pathway that generates a toxic metabolite to the oligodendroglia. What is that metabolite?

A

Galactosylsphingosine

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5
Q

With Krabbe Disease (leukodystrophy) there will be motor signs when the child is 3-6 months old. What cells are present?

A

Globoid cells = engorged macrophages aggregating

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6
Q

Globoid cells are engorged macrophages. What leukodystrophy are they seen with?

A

Krabbe Disease

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7
Q

What enzyme is deficient with Metachromatic Leukodystrophy?

A

Arylsulfatase A

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8
Q

What metabolite accumulates with Metachromatic Leukodystrophy?

A

Cerebroside Sulfates

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9
Q

With Metachromatic Leukodystrophy, Cerebroside Sulfate accumulates and can bind to a toluidine blue stain. What will that show in the brain?

A

Metachromasia (colorful)

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10
Q

How is Adrenoleukodystrophy inherited?

A

X-linked

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11
Q

What gene is mutated with Adrenoleukodystrophy?

A

ABCDE1

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12
Q

What accumulates with Adrenoleukodystrophy?

A

VLCFAs

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13
Q

What is the unique symptom with Adrenoleukodystrophy?

A

Adrenal insufficiency and myelin loss

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14
Q

How is Pelizoeus-Merzbacher Disease (leukodystrophy) inherited?

A

X-linked

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15
Q

What symptom is present with Pelizoeus-Merzbacher DIsease?

A

Pendular eye movements

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16
Q

With Pelizoeus-Merzbacher Disease, the myelin is completely lost. The patches that remain are seen as?

A

Tigroid pattern

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17
Q

With Canavan Disease (leukodystrophy), what enzyme is deficient?

A

Aspartoacylase

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18
Q

With Canavan Disease (leukodystrophy), what accumulates?

A

Acetylaspartic Acid

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19
Q

What histo change in the white matter occurs with Canavan Disease (Leukodystrophy)?

A

Spongiform degeneration of the white matter

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20
Q

What symptoms are present with Canavan Disease (leukodystrophy)?

A

Megacephaly

Blindness

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21
Q

What mutation is present with Alexander Disease (leukodystrophy)?

A

GFAP mutation

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22
Q

What accumulates around blood vessels with Alexander Disease (leukodystrophy)?

A

Rosenthal fibers around vessels

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23
Q

What do Mitochondrial Encephalomyopathies involve?

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A

Gray matter and SKELETAL MUSCLE

24
Q

Mitochondrial Encephalomyopathies are inherited from which parent?

25
What are the 2 Mitochondrial Encephalomyopathies?
MELAS | MERRF
26
MELAS mutation
MTTL1
27
What are the signs of MELAS?
Muscle weakness with lactic acidosis | Stroke-like episodes
28
Muscle weakness with lactic acidosis and stroke-like episodes could be which Mitochondrial Encephalomyopathy?
MELAS
29
What is weird about the stroke-like episodes with MELAS?
Deficits do not correspond to vascular territories
30
What mutation is present with MERRF?
tRNA mutations
31
What histo item is seen with MERRF?
Ragged red fibers
32
What are the 2 symptoms of MERRF?
Myoclonus and seizures
33
Thiamine Deficiency (B1) is usually seen in what type of patients?
Chronic Alcoholics
34
What is the reversible Thiamine (B1) deficiency?
Wernicke Encephalopathy
35
What will be seen on the brain with Wernicke Encephalopathy (thiamine/B1 deficient)?
Hemorrhage and necrosis of mamiillary bodies
36
Hemorrhage and necrosis of mamillary bodies is seen with?
Wernicke Encephalopathy | -- thiamine (B1) deficiency
37
What is the irreversible Thiamine (B1) deficiency?
Korsakoff Syndrome
38
Symptoms of Korsakoff syndrome?
Memory issues and confabulation
39
With B12 deficiency, what degenerates?
Ascending and Descending axons = subacute combined degeneration
40
Subacute combined degeneration (loss of ascending and descending axons) is seen with what vitamin deficiency?
B12 deficiency
41
What histo change is seen with Hypoglycemia in the brain?
Pseudolaminar necrosis
42
Pseudolaminar necrosis
Hypoglycemia
43
Hyperglycemia does not involve brain changes. What are the symptoms?
Confusion, stupor, coma
44
What 2 things can be associated with Hyperglycemia?
Ketoacidosis | Hyperosmolar coma
45
Hepatic Encephalopathy is impaired liver function that causes what metabolite to accumulate in the brain?
Ammonia
46
What cells will be seen with Hepatic Encephalopathy?
Alzheimer Type 2 cells
47
Carbon Monoxide changes to the brain?
Bilateral necrosis of globus pallidi
48
Bilateral necrosis of globus pallidi suggest?
Carbon monoxide poisoning
49
Methanol causes what cells to degenerate and why?
Retinal ganglion cells due to formate
50
What brain change is seen with Methanol consumption?
Bilateral putamenal necrosis
51
Bilateral putamenal necrosis suggests?
Methanol poisoning
52
What part of the brain atrophies with Ethanol?
Anterior vermis of cerebellum
53
Histo change with Ethanol consumption?
Bergmann gliosis
54
What is Bergmann Gliosis?
Decreased purkinje cells and astrocyte proliferation
55
What part of the brain atrophies with Ethanol consumption?
Anterior vermis of cerebellum

NMSP (28 decks)

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