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
Q

What is the associated disorder of the autoantibody anticentromere?

A

Scleroderm (CReST)

26
Q

What is the associated disorder of the autoantibody Anti-Scl-70

A

Scleroderma (diffuse)

27
Q

What is the associated disorder of the autoantibody antimitochondrial?

A

Primary biliary cirrhosis

28
Q

What is the associated disorder of the autoantibody antigliadin?

A

Celiac disease

29
Q

What is the associated disorder of the autoantibody anti-basement membrane?

A

Goodpasture’s syndrome

30
Q

What is the associated disorder of the autoantibody anti-epithelial cell

A

Pemphigus vulgaris

31
Q

What is the associated disorder of the autoantibody antimicrosomal, antithyroglobulin?

A

Hashimoto’s thyroiditis

32
Q

What is the associated disorder of the autoantibody anti-Jo-1

A

Polymyositis, dermatomysositis

33
Q

What is the associated disorder of the autoantibody anti-SS-A (anti-Ro)

A

Sjogren’s syndrome

34
Q

What is the associated disorder of the autoantibody anti-SS-B (anti-La)

A

Sjogren’s syndrome

35
Q

What is the associated disorder of the autoantibody Anti-U1 RNP (ribonucleoprotein)

A

Mixed CT disease

36
Q

What is the associated disorder of the autoantibody Anti-smooth muscle?

A

Autoimmune hepatitis

37
Q

What is the associated disorder of the autoantibody anti-glutamate decarboxylase?

A

type 1 diabetes mellitus

38
Q

What is the associated disorder of the autoantibody c-ANCA?

A

Wegener’s granulomatosis

39
Q

What is the associated disorder of the autoantibody p-ANCA

A

Other vasculitides

40
Q

What blood type can type A blood give to?

A

A, AB

41
Q

What blood type can type B blood give to?

A

B, AB

42
Q

What blood type can type AB blood give to?

A

AB

43
Q

What blood type can type O blood give to?

A

O, AB, A, B

44
Q

What blood type can type A receive from?

A

A, O

45
Q

What blood type can type B receive from?

A

B, O

46
Q

What blood type can type AB receive from?

A

AB, A, B, O

47
Q

What blood type can type O receive from?

A

O

48
Q

What does the HLA subtype A3 a sign for?

A

Hemochromatosis, myasthenia gravis, multiple sclerosis

49
Q

What does the HLA subtype B27 a sign for?

A

Psoriasis, Ankylosing spondylitis, Inflammatory bowel disease, Reiter’s syndrome (conjuctivits, urethritis, arthritis)

50
Q

What does the HLA subtype B8 a sign for?

A

Graves’ disease, celiac sprue

51
Q

What does the HLA subtype DR2 a sign for?

A

Multiple sclerosis, hay fever, SLE, goodpasture’s

52
Q

What does the HLA subtype DR3 a sign for?

A

Diabetes mellitus type 1

53
Q

What does the HLA subtype DR4 a sign for?

A

Rheumatoid arthritis, diabetes mellitus type 1

54
Q

What does the HLA subtype DR5 a sign for?

A

Pernicious anemia -> B12 deficiency, Hashimoto’s thyroiditis

55
Q

What does the HLA subtype DR7 a sign for?

A

Steroid-reponsive nephrotic syndrome

56
Q

What are the findings with Von Gierke’s disease?

A

Severe fasting hypoglycemia, Increased glycogen in liver, Increased blood lactate, hepatomegaly

57
Q

What are the findings with Pompe’s disease?

A

Cardiomegaly and systemic findings leading to early death (heart, liver and muscle)

58
Q

What are the findings with Cori’s disease?

A

Milder form of type I with normal blood lactate levels, Gluconeogenesis is intact

59
Q

What are the findings with McArdle disease?

A

Increase glycogen in muscle, but cannot break it down, leading to painful muscle cramps, myoglobinuria with strenuous exercise

60
Q

What is the amino acid progression for phenylketonuria?

A

Phenylalanine -> Tyrosine -> Dopa -> Dopamine -> Norepinephrine -> Epinephrine