Tables to memorize Flashcards

1
Q

What is the enzyme deficiency for GSD type I?

A

Glucose-6-phosphatase

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2
Q

What is the eponym for GSD type I?

A

Von Gierke’s disease

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3
Q

What is the enzyme deficiency for GSD type II?

A

Acid maltase

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4
Q

What is the eponym for GSD type II?

A

Pompe’s disease

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5
Q

What is the enzyme deficiency for GSD type III?

A

glycogen debrancher

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6
Q

What is the eponym for GSD type III?

A

Cori’s disease or Forbe’s disease

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7
Q

What is the enzyme deficiency for GSD type IV?

A

Glycogen branching enzyme

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8
Q

What is the eponym for GSD type IV?

A

Andersen Disease

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9
Q

What is the enzyme deficiency for GSD type V?

A

Muscle glycogen phosphorylase

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10
Q

What is the eponym for GSD type V?

A

McArdle disease

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11
Q

What is the enzyme deficiency for GSD type VI?

A

Liver glycogen phosphorylase

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12
Q

What is the eponym for GSD type VI?

A

Hers’ disease

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13
Q

What is the enzyme deficiency for GSD type VII?

A

muscle phosphofructokinase

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14
Q

What is the eponym for GSD type VII?

A

Tarui’s disease

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15
Q

What is the enzyme deficiency for GSD type VIII?

A

Now classified with type VI (liver glycogen phosphorylase) has been described as X-linked recessive

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16
Q

What is the enzyme deficiency for GSD type IX?

A

Phosphorylase kinase, PHKA2

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17
Q

What is the enzyme deficiency for GSD type X?

A

Now classified with VI (liver glycogen phosphorylase)

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18
Q

What is the enzyme deficiency for GSD type XI?

A

Flucose transporter, GLUT 2

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19
Q

What is the eponym for GSD type XI?

A

Fanconi-Bickel syndrome

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20
Q

What is the enzyme deficiency for GSD type 0?

A

glycogen synthase

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21
Q

What is the associated disorder of the autoantibody antinuclear antibodies (ANA)?

A

SLE

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22
Q

What is the associated disorder of the autoantibody Anti-dsDNA, anti-smith?

A

Specific for SLE

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23
Q

What is the associated disorder of the autoantibody antihistone?

A

Drug-induced lupus

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24
Q

What is the associated disorder of the autoantibody Anti-IgG (rhematoid factor)

A

Rheumatoid arthritis

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25
What is the associated disorder of the autoantibody anticentromere?
Scleroderm (CReST)
26
What is the associated disorder of the autoantibody Anti-Scl-70
Scleroderma (diffuse)
27
What is the associated disorder of the autoantibody antimitochondrial?
Primary biliary cirrhosis
28
What is the associated disorder of the autoantibody antigliadin?
Celiac disease
29
What is the associated disorder of the autoantibody anti-basement membrane?
Goodpasture's syndrome
30
What is the associated disorder of the autoantibody anti-epithelial cell
Pemphigus vulgaris
31
What is the associated disorder of the autoantibody antimicrosomal, antithyroglobulin?
Hashimoto's thyroiditis
32
What is the associated disorder of the autoantibody anti-Jo-1
Polymyositis, dermatomysositis
33
What is the associated disorder of the autoantibody anti-SS-A (anti-Ro)
Sjogren's syndrome
34
What is the associated disorder of the autoantibody anti-SS-B (anti-La)
Sjogren's syndrome
35
What is the associated disorder of the autoantibody Anti-U1 RNP (ribonucleoprotein)
Mixed CT disease
36
What is the associated disorder of the autoantibody Anti-smooth muscle?
Autoimmune hepatitis
37
What is the associated disorder of the autoantibody anti-glutamate decarboxylase?
type 1 diabetes mellitus
38
What is the associated disorder of the autoantibody c-ANCA?
Wegener's granulomatosis
39
What is the associated disorder of the autoantibody p-ANCA
Other vasculitides
40
What blood type can type A blood give to?
A, AB
41
What blood type can type B blood give to?
B, AB
42
What blood type can type AB blood give to?
AB
43
What blood type can type O blood give to?
O, AB, A, B
44
What blood type can type A receive from?
A, O
45
What blood type can type B receive from?
B, O
46
What blood type can type AB receive from?
AB, A, B, O
47
What blood type can type O receive from?
O
48
What does the HLA subtype A3 a sign for?
Hemochromatosis, myasthenia gravis, multiple sclerosis
49
What does the HLA subtype B27 a sign for?
Psoriasis, Ankylosing spondylitis, Inflammatory bowel disease, Reiter's syndrome (conjuctivits, urethritis, arthritis)
50
What does the HLA subtype B8 a sign for?
Graves' disease, celiac sprue
51
What does the HLA subtype DR2 a sign for?
Multiple sclerosis, hay fever, SLE, goodpasture's
52
What does the HLA subtype DR3 a sign for?
Diabetes mellitus type 1
53
What does the HLA subtype DR4 a sign for?
Rheumatoid arthritis, diabetes mellitus type 1
54
What does the HLA subtype DR5 a sign for?
Pernicious anemia -> B12 deficiency, Hashimoto's thyroiditis
55
What does the HLA subtype DR7 a sign for?
Steroid-reponsive nephrotic syndrome
56
What are the findings with Von Gierke's disease?
Severe fasting hypoglycemia, Increased glycogen in liver, Increased blood lactate, hepatomegaly
57
What are the findings with Pompe's disease?
Cardiomegaly and systemic findings leading to early death (heart, liver and muscle)
58
What are the findings with Cori's disease?
Milder form of type I with normal blood lactate levels, Gluconeogenesis is intact
59
What are the findings with McArdle disease?
Increase glycogen in muscle, but cannot break it down, leading to painful muscle cramps, myoglobinuria with strenuous exercise
60
What is the amino acid progression for phenylketonuria?
Phenylalanine -> Tyrosine -> Dopa -> Dopamine -> Norepinephrine -> Epinephrine