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Lynne Study Flashcards > Progressive Metabolic Diseases > Flashcards

Progressive Metabolic Diseases Flashcards

1
Q

Alpha-galactosidase

A

Fabry Disease

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2
Q

Fabry Disease inheritance

A

X-linked

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3
Q 
Involvement:
Heart
Kidney
Painful demyelinating peripheral neuropathy
TIA's
A

Fabry Disease

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4
Q 
Involvement:
Proximal/respiratory weakness
Elevated CK
Hypotonia
Macroglossia
A

Pompe Disease

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5
Q

Pompe disease inheritance

A

Autosomal recessive

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6
Q

Alpha glucosidase

A

Pompe disease

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7
Q 
Involvement: 
Mental regression
Ataxia
Hypertonia
Flaccid Paraplegia
Pyramidal signs
Optic atrophy
A

Metachromatic leukodystrophy

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8
Q

Arylsulfatase

A

metachromatic leukodystrophy

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9
Q 
Involvement: 
peripheral neuropathy
retinitis pigments
cerebellar ataxia
ichthyosis
A

Refsum disease

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10
Q

Phytanic acid

A

Refsum disease

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11
Q

Refsum disease inheritance

A

Autosomal recessive

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12
Q

Refsum disease gene

A

PEX7

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13
Q

Pompe disease gene

A

acid-alpha glucosidase (GAA)

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14
Q

Metachromatic leukodystrophy gene

A

ARSA/PSAP

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15
Q

Metachromatic leukodystrophy inheritance

A

Autosomal recessive

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16
Q 
Involvement: 
Progressive weakness
Hearing/vision loss
Stiffness
Regression
Seizures
A

Krabbe disease

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17
Q

Krabbe disease inheritance

A

Autosomal recessive

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18
Q

Krabbe disease gene

A

GALC

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19
Q

Galactosylceramidase deficiency/loss of function

A

Krabbe Disease

20
Q 
Involvement: 
Optic atrophy
Deafness
Macrocephaly
Developmental Delay
Hypotonia/poor head control
Spasticity
A

Canavan disease

21
Q

Canavan gene

A

ASPA (enzyme NAA)

22
Q

Elevated urine N-acetylaspartic acid

A

Canavan disease

23
Q

MRI findings Krabbe

A

T2: High signal periventricular white, centrum semiovale, deep gray. U-fiber sparing
No contrast enhancement

24
Q

Canavan disease MRI

A

T1: Hypointense and t2: hyper intense white matter disease sparing CC, caudate, putamen and internal capsule but gets GP and thalami. U-fibers affected!

25
Q 
Involvement:
Seizures
Spasticity
Regression
Macrocephaly
U-fibers effected early
A

Alexander disease

26
Q

Alexander disease MRI

A

T2 hyper intensity in bifrontal white matter Caudate>Globus Pallidus >Thalamus >Brainstem
Contrast enhancement present

27
Q

GFAP involvement

A

Alexander disease

28
Q 
Pendular eye movements
Hypotonia
Pyramidal disease
Ataxia
Seizures
A

Pelizaeus-Merzbacher

29
Q

Pelizaeus-Merzbacher gene

A

PLP1 (xp22)

30
Q

Pelizaeus-Merzbacher inheritance

A

X-linked recessive

31
Q

Pelizaeus-Merzbacher MRI findings

A

Hypomyelination
Patchy/tigroid involvement
Atrophy

32
Q 
Behavior changes
Poor Memory
Poor school performance
Visual loss
Seizures
Dysarthria
Gait disturbance
Abnormal pigmentation
A

Adrenoleukodystrophy

33
Q

Adrenoleukodystrophy inheritance

A

X-linked

34
Q

Adrenoleukodystrophy enzyme

A

VLCFAD

35
Q 
Involvement: 
Behavior changes
Regression
Seizures
Behavior difficulties
Frequent respiratory infections
Cherry Red Spot
A

Tay-Sachs

36
Q

Tay-Sachs Enzyme

A

Hexosaminidase

37
Q

Tay-Sachs gene

A

HEXA

38
Q

Tay-Sachs inheritance

A

Autosomal recessive

39
Q 
Involvement: 
Skeletal disorders
Hepatosplenomegaly
Thrombocytopenia
Seizures
Developmental regression
A

Gaucher’s disease

40
Q

Gaucher’s disease inheritance

A

Autosomal recessive

41
Q

Gaucher’s disease gene

A

GBA

42
Q

Sphinigolipid accumulation

A

Gaucher’s

43
Q

Presentation:
Late life distal axonopathy
Adrenal insufficiency

A

Adrenomyeloneuropathy

44
Q

Sphingomyelinase deficiency

A

Neimann-Pick

45
Q 
Presentation: 
Neurodegeneration 
Hepatosplenomegaly
Foam laden macrophages
Cherry red spot
A

Neimann-Pick

46
Q 
Presentation: 
Exaggerated startle 3-6 months
Motor regression
Spasticity 
Blindness/optic atrophy
Seizures
Cherry red spot
Hepatosplenomegaly
A

GM2 Gangliosidosis (Sandhoff syndrome)

Like Tay-Sachs but has hepatosplenomegaly

47
Q

Hexosaminidase A & B

A

Sandhoff syndrome /GM2 gangliosidosis

Lynne Study Flashcards (9 decks)

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