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Biochemical Genetics > Lysosomal Storage Disorders > Flashcards

Lysosomal Storage Disorders Flashcards

1
Q

Fabry inheritance

A

XLR

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2
Q

Fabry gene

A

GLA

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3
Q

Fabry enzyme deficiency

A

Alpha galactosidase

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4
Q

Untreated symptoms of Fabry

A 
Burning/painful episodes
Small red-purple spots on skin
Dyshydrosis
Ocular opacities
Renal failure
Cardiovascular
Cerebrovascular disease
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5
Q

Treatment of Fabry (Preventative)

A

ERT

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6
Q

Gaucher inheritance

A

AR

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7
Q

Gaucher gene

A

GBA

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8
Q

Gaucher enzyme deficiency

A

Glucocerebrosidase

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9
Q

Type 1 Gaucher untreated features

A 
Bone disease
HSM
Cytopenias
Pulmonary involvement
Parkinsons
No early neurodegeneration
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10
Q

Gaucher Type 2/3 untreated features

A 
FTT
Minimal development
HSM
Spasticity
Opisthotonus
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11
Q

Preventative treatment Gaucher

A

ERT

BMT

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12
Q

Symptomatic treatment Gaucher

A

Splenectomy
Transplantation
Pain meds/joint replacement

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13
Q

Niemann Pick Disease inheritance

A

AR

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14
Q

NPD gene

A

SMPD1

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15
Q

NPD enzyme deficiency

A

Sphinomyelin phosphodiesterase

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16
Q

Untreated Type A NPD

A

Neurodegeneration
HSM
Pulmonary involvement

17
Q

Untreated type B NPD

A

HSM
Pulmonary dysfunction
Abnormal lipids

18
Q

Preventative treatment NPD

19
Q

Treatment for symptomatic NPD

A

Platelet transfusion
Avoid splenectomy
Cholesterol lowering meds
Supplemental oxygen

20
Q

Tay sachs inheritance

21
Q

Tay sachs gene

22
Q

Tay sachs enzyme deficiency

A

Hexosaminidase

23
Q

Untreated tay sachs features

A

Neurodegeneration
No organomegaly
Cherry red spot

24
Q

Supportive treatment for tay sachs

A

Anti-epileptic meds
Respiratory support
Supplemental nutrition

25
Q

Krabbe disease inheritance

26
Q

Krabbe disease gene

27
Q

Krabbe disease enzyme deficiency

A

Beta galactosidase

28
Q

Untreated Krabbe disease

A

Irritability, FTT, stop developing
Neurodegeneration
Blind, deaf, death

29
Q

Preventative treatment for Krabbe

A

HSCT

Possibly ERT

30
Q

MLD inheritance

31
Q

MLD gene

32
Q

MLD enzyme deficiency

A

arylsulfatase

33
Q

Untreated MLD

A

Weakness, falling, slurred speech, DD
Neurodegeneration, seizures, optic atrophy
Blindness, rigidity, death

34
Q

Preventative MLD treatment

Biochemical Genetics (9 decks)

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