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NMSP > Genetic Metabolic Diseases > Flashcards

Genetic Metabolic Diseases Flashcards

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?

A

Gray matter and SKELETAL MUSCLE

24
Q

Mitochondrial Encephalomyopathies are inherited from which parent?

A

Mother

25
Q

What are the 2 Mitochondrial Encephalomyopathies?

A

MELAS

MERRF

26
Q

MELAS mutation

A

MTTL1

27
Q

What are the signs of MELAS?

A

Muscle weakness with lactic acidosis

Stroke-like episodes

28
Q

Muscle weakness with lactic acidosis and stroke-like episodes could be which Mitochondrial Encephalomyopathy?

A

MELAS

29
Q

What is weird about the stroke-like episodes with MELAS?

A

Deficits do not correspond to vascular territories

30
Q

What mutation is present with MERRF?

A

tRNA mutations

31
Q

What histo item is seen with MERRF?

A

Ragged red fibers

32
Q

What are the 2 symptoms of MERRF?

A

Myoclonus and seizures

33
Q

Thiamine Deficiency (B1) is usually seen in what type of patients?

A

Chronic Alcoholics

34
Q

What is the reversible Thiamine (B1) deficiency?

A

Wernicke Encephalopathy

35
Q

What will be seen on the brain with Wernicke Encephalopathy (thiamine/B1 deficient)?

A

Hemorrhage and necrosis of mamiillary bodies

36
Q

Hemorrhage and necrosis of mamillary bodies is seen with?

A

Wernicke Encephalopathy

– thiamine (B1) deficiency

37
Q

What is the irreversible Thiamine (B1) deficiency?

A

Korsakoff Syndrome

38
Q

Symptoms of Korsakoff syndrome?

A

Memory issues and confabulation

39
Q

With B12 deficiency, what degenerates?

A

Ascending and Descending axons = subacute combined degeneration

40
Q

Subacute combined degeneration (loss of ascending and descending axons) is seen with what vitamin deficiency?

A

B12 deficiency

41
Q

What histo change is seen with Hypoglycemia in the brain?

A

Pseudolaminar necrosis

42
Q

Pseudolaminar necrosis

A

Hypoglycemia

43
Q

Hyperglycemia does not involve brain changes. What are the symptoms?

A

Confusion, stupor, coma

44
Q

What 2 things can be associated with Hyperglycemia?

A

Ketoacidosis

Hyperosmolar coma

45
Q

Hepatic Encephalopathy is impaired liver function that causes what metabolite to accumulate in the brain?

A

Ammonia

46
Q

What cells will be seen with Hepatic Encephalopathy?

A

Alzheimer Type 2 cells

47
Q

Carbon Monoxide changes to the brain?

A

Bilateral necrosis of globus pallidi

48
Q

Bilateral necrosis of globus pallidi suggest?

A

Carbon monoxide poisoning

49
Q

Methanol causes what cells to degenerate and why?

A

Retinal ganglion cells due to formate

50
Q

What brain change is seen with Methanol consumption?

A

Bilateral putamenal necrosis

51
Q

Bilateral putamenal necrosis suggests?

A

Methanol poisoning

52
Q

What part of the brain atrophies with Ethanol?

A

Anterior vermis of cerebellum

53
Q

Histo change with Ethanol consumption?

A

Bergmann gliosis

54
Q

What is Bergmann Gliosis?

A

Decreased purkinje cells and astrocyte proliferation

55
Q

What part of the brain atrophies with Ethanol consumption?

A

Anterior vermis of cerebellum

NMSP (28 decks)

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