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TOP THE BOARDS!!!!!! > Self Study Module 📌 > Flashcards

Self Study Module 📌 Flashcards

1
Q

C24:0, C25:0, C26:0

Peroxisomal enzyme for very long chain fatty acid oxidation

A

Zellweger Syndrome

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2
Q

a-1,6-glucosidase

A

Cori’s -GSD type III

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3
Q

Debranching enzyme

A

Cori’s -GSD type III

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4
Q

a1-antitrypsin

A

Panacina emphysema

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5
Q

a-galactosidase A

A

Fabry’s

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6
Q

Ceramide trihexoside

Renal failure

A

Fabry’s

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7
Q

a-ketoacid dehydrogenase

A

Maple syrup urine

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8
Q

Poor debranching of AA

A

Maple syrup urine

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9
Q

Aspartoacylase

A

Canavan disease

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10
Q

11-b-hydroxylase deficiency

Salt / water saver, hypertension suppresses AT II / aldosterone

A

Congenital adrenal hyperplasia

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11
Q

17-a-hydroxylase deficiency

Hypertension, ⬇️ sex hormones, ⬆️ cortisol

A

Congenital adrenal hyperplasia

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12
Q

21-hydroxylase deficiency

Salt water (⬇️ aldosterone), hypotension

A

Congenital adrenal hyperplasia

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13
Q

3b-hydroxysteroid

Salt losing, ⬇️ aldosterone, ⬇️ glucocorticoids

A

Congenital adrenal hyperplasia

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14
Q

5a-reductase deficiency

Lack of DHT yields ambiguous genitalia

A

Penis-at-12 syndrome

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15
Q

Several copper-dependent enzymes: cytochrome oxidase

A

Menkes kinky hair disease

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16
Q

Kinky or steely hair

A

Menkes kinky hair disease

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17
Q

Peroxisomes / Pipecolate oxidase

A

Zellweger Syndrome

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18
Q

7-dehydrocholesterol reductase

A

Smith-Lemli-Opitz Syndrome

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19
Q

Defective cholesterol and bile acid synthesos

Vit D

Presents with polydactyly or syndactyly and ambiguous genitalia

A

Smith-Lemli-Opitz Syndrome

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20
Q

Adenosine deaminase deficiency

A

Severe combind immunodeficiency

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21
Q

First disease treated with gene therapy

“Bubble boy”

A

Severe combined immunodeficiency

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22
Q

Pyruvate dehydrogenase

A

Alpers disease

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23
Q

Cysteine dioxygenase

A

Hallevorden-Spatz disease

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24
Q

“Eye of the Tiger” sign on MRI

A

Hallevorden-Spatz disease

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25
Q

Cystathionine synthetase

A

Homocystinuria

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26
Q

Subluxation of the lenses (optic lentis)

A

Homocystinuria

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27
Q

Hemolytic anemia

Heinz bodies

⬇️ MPO

A

G6PD deficiency

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28
Q

Galactose-1-phoshouridyl transferase

A

Galactosemia

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29
Q

Galactose-1-phosphate

Cataracts

A

Galactosemia

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30
Q

Glucocerebrosidase

A

Gauchers disease

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31
Q

Glucocerebroside

Crumbled paper cytoplasm

A

Gauchers disease

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32
Q

Galactosylceramide a-galactosidase (GALC)

A

Krabbe disease

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33
Q

Glucose-6-phosphatase

A

Von Gierke’s - GSD type I

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34
Q

Hepatomegaly

A

Von Gierke’s

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35
Q

Hexosaminidase A

A

Tay-Sachs Disease

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36
Q

GM2 gangliosidase

Cherry red spot in macula

Jews

A

Tay-Sachs Disease

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37
Q

HGPRTase

A

Lesch-Nylan Syndrome

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38
Q

Uric acid

Purine salvage pathway

A

Lesch-Nylan Syndrome

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39
Q

Homogentisic acid oxidase

A

Alkaptonuria

40
Q

Homogentisic acid

Black urine, joints, cartilage

A

Alkaptonuria

41
Q

Lactase

A

Lactose intolerance

42
Q

Lysosomal acid maltase

A

Pompe’s - GSD type II

43
Q

Cardiomegaly with heart failure at early age

A

Pompe’s - GSD type II

44
Q

Lysosomal hydrolase deficiency

A

Mucopolysaccharidoses

45
Q

Accumulation of GAGs

A

Mucopolysaccharidoses

46
Q

Iduronate sulfatase

A

Hunter disease (MPS II)

47
Q

a-L-iduronidase

A

Hurler disease (MPS I)

48
Q

Heparan-N-sulfatase

A

Sanfillipo disease (MPS III)

49
Q

Aryl sulfatase A

A

Metachromatic leudkodystrophy

50
Q

Muscle phosphorylase

A

McArdle’s - GSD type IV

51
Q

Painful cramps with exercise

Rhabdomyolsis

A

McArdle’s

52
Q

NADPH oxidase deficiency

A

Chronic Granulomatous Disease

53
Q

Myeloperoxidase problem

Catalase positive

Staph infections

A

Chronic Granulomatous Disease

54
Q

PBG deaminase

A

Acute intermittent porphyria

55
Q

Heme synthesis

A

Acute intermittent porphyria

56
Q

Phenylalanine hydroxylase

A

Phenylketonuria (PKU)

57
Q

Rib notching

A

Coarctation of the aorta

58
Q

Boot-shaped heart

A

Tetralogy of Fallot

59
Q

Couer en sabot

A

Tetralogy of Fallot

60
Q

“Wall to wall”

Box-shaped heart

A

Ebstein’s anomaly

61
Q

Snowman

Figure of 8

62
Q

Uroporphyrinogen decarboxylase

A

Porphyria cutanea tarda

63
Q

Most common porphyria

Familial

(+) photosensitivity

A

Porphyria cutanea tarda

64
Q

Kayser Flescher rings

A

Wilson disease

65
Q

Membrane-bound Cu-binding ATPase

A

Wilson disease

66
Q

Tyrosinase

67
Q

Tyrosinase deficiency

68
Q

Phosphofructokinase (PFK)

A

Tarui disease

69
Q

Spingomyelinase

A

Niemann-Pick

70
Q

Spingomyelin

Die by 3 yrs old

A

Niemann-Pick

71
Q

Superoxide dismutase

A

Amyotropic Lateral Sclerosis

72
Q

Bird’s beak appearance

73
Q

Double tract sign or shoulder sign

A

PYLORIC STENOSIS

74
Q

Coffee bean sign

“Bent inner tube” sign

A

SIGMOID VOLVULUS

75
Q

Palla’s sign

A

Pulmonary embolism

76
Q

Hampton’s hump

A

Pulmonary embolism

77
Q

Deflection of mediastinum

A

Atelectasis (towards the affected side)

78
Q

Popcorn lung

“Coin lesion”

A

Bronchiolitis obliterans

79
Q

Bamboo spine

A

Ankylosing spondylitis

80
Q

Overlapping of the fetal skull bones

A

Spalding sign

81
Q

Plain xray of the abdomen reveals presence of gas in the fetal aorta

A

Robert’s sign

82
Q

Corkscrew sign

A

Diffuse esophageal spasm

83
Q

Ram’s horn

A

Crohn’s disease

84
Q

DOC for seizure+pregnancy

A

Phenobarbital

85
Q

DOc for active TB+pregnancy

86
Q

DOC of Wuchereria Bancrofti

87
Q

DOC for hepatic encephalopathy

88
Q

DOC for migraine

A

Ergotamine

89
Q

DOC for bronchogenic carcinoma

A

Cisplatin/Cyclophosphamide + Etoposide

90
Q

DOC for pancreatic carcinoma

91
Q

DOC for typhoid fever

A

Ceftriaxone

92
Q

DOC for hypothyroidism

A

Levothyroxine

93
Q

DOC for myxedema coma

A

Liothyronine

94
Q

DOC for hypertriglyceridemia

A

Fenofibrates

95
Q

DOC for Organophosphate poisoning

A

atropine or pralidoxime

96
Q

MOA of digitalis

A

Na-K-ATPase pump

97
Q

MOA of omperazole

A

H-K-ATPase pump

TOP THE BOARDS!!!!!! (23 decks)

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