Self Study Module 📌

Question 1

C24:0, C25:0, C26:0

Peroxisomal enzyme for very long chain fatty acid oxidation

Answer 1

Zellweger Syndrome

Question 2

a-1,6-glucosidase

Answer 2

Cori’s -GSD type III

Question 3

Debranching enzyme

Answer 3

Cori’s -GSD type III

Question 4

a1-antitrypsin

Answer 4

Panacina emphysema

Question 5

a-galactosidase A

Answer 5

Fabry’s

Question 6

Ceramide trihexoside

Renal failure

Answer 6

Fabry’s

Question 7

a-ketoacid dehydrogenase

Answer 7

Maple syrup urine

Question 8

Poor debranching of AA

Answer 8

Maple syrup urine

Question 9

Aspartoacylase

Answer 9

Canavan disease

Question 10

11-b-hydroxylase deficiency

Salt / water saver, hypertension suppresses AT II / aldosterone

Answer 10

Congenital adrenal hyperplasia

Question 11

17-a-hydroxylase deficiency

Hypertension, ⬇️ sex hormones, ⬆️ cortisol

Answer 11

Congenital adrenal hyperplasia

Question 12

21-hydroxylase deficiency

Salt water (⬇️ aldosterone), hypotension

Answer 12

Congenital adrenal hyperplasia

Question 13

3b-hydroxysteroid

Salt losing, ⬇️ aldosterone, ⬇️ glucocorticoids

Answer 13

Congenital adrenal hyperplasia

Question 14

5a-reductase deficiency

Lack of DHT yields ambiguous genitalia

Answer 14

Penis-at-12 syndrome

Question 15

Several copper-dependent enzymes: cytochrome oxidase

Answer 15

Menkes kinky hair disease

Question 16

Kinky or steely hair

Answer 16

Menkes kinky hair disease

Question 17

Peroxisomes / Pipecolate oxidase

Answer 17

Zellweger Syndrome

Question 18

7-dehydrocholesterol reductase

Answer 18

Smith-Lemli-Opitz Syndrome

Question 19

Defective cholesterol and bile acid synthesos

Vit D

Presents with polydactyly or syndactyly and ambiguous genitalia

Answer 19

Smith-Lemli-Opitz Syndrome

Question 20

Adenosine deaminase deficiency

Answer 20

Severe combind immunodeficiency

Question 21

First disease treated with gene therapy

“Bubble boy”

Answer 21

Severe combined immunodeficiency

Question 22

Pyruvate dehydrogenase

Answer 22

Alpers disease

Question 23

Cysteine dioxygenase

Answer 23

Hallevorden-Spatz disease

Question 24

“Eye of the Tiger” sign on MRI

Answer 24

Hallevorden-Spatz disease

Question 25

Cystathionine synthetase

Answer 25

Homocystinuria

Question 26

Subluxation of the lenses (optic lentis)

Answer 26

Homocystinuria

Question 27

Hemolytic anemia Heinz bodies ⬇️ MPO

Answer 27

G6PD deficiency

Question 28

Galactose-1-phoshouridyl transferase

Answer 28

Galactosemia

Question 29

Galactose-1-phosphate Cataracts

Answer 29

Galactosemia

Question 30

Glucocerebrosidase

Answer 30

Gauchers disease

Question 31

Glucocerebroside Crumbled paper cytoplasm

Answer 31

Gauchers disease

Question 32

Galactosylceramide a-galactosidase (GALC)

Answer 32

Krabbe disease

Question 33

Glucose-6-phosphatase

Answer 33

Von Gierke's - GSD type I

Question 34

Hepatomegaly

Answer 34

Von Gierke's

Question 35

Hexosaminidase A

Answer 35

Tay-Sachs Disease

Question 36

GM2 gangliosidase Cherry red spot in macula Jews

Answer 36

Tay-Sachs Disease

Question 37

HGPRTase

Answer 37

Lesch-Nylan Syndrome

Question 38

Uric acid Purine salvage pathway

Answer 38

Lesch-Nylan Syndrome

Question 39

Homogentisic acid oxidase

Answer 39

Alkaptonuria

Question 40

Homogentisic acid Black urine, joints, cartilage

Answer 40

Alkaptonuria

Question 41

Lactase

Answer 41

Lactose intolerance

Question 42

Lysosomal acid maltase

Answer 42

Pompe's - GSD type II

Question 43

Cardiomegaly with heart failure at early age

Answer 43

Pompe's - GSD type II

Question 44

Lysosomal hydrolase deficiency

Answer 44

Mucopolysaccharidoses

Question 45

Accumulation of GAGs

Answer 45

Mucopolysaccharidoses

Question 46

Iduronate sulfatase

Answer 46

Hunter disease (MPS II)

Question 47

a-L-iduronidase

Answer 47

Hurler disease (MPS I)

Question 48

Heparan-N-sulfatase

Answer 48

Sanfillipo disease (MPS III)

Question 49

Aryl sulfatase A

Answer 49

Metachromatic leudkodystrophy

Question 50

Muscle phosphorylase

Answer 50

McArdle's - GSD type IV

Question 51

Painful cramps with exercise Rhabdomyolsis

Answer 51

McArdle's

Question 52

NADPH oxidase deficiency

Answer 52

Chronic Granulomatous Disease

Question 53

Myeloperoxidase problem Catalase positive Staph infections

Answer 53

Chronic Granulomatous Disease

Question 54

PBG deaminase

Answer 54

Acute intermittent porphyria

Question 55

Heme synthesis

Answer 55

Acute intermittent porphyria

Question 56

Phenylalanine hydroxylase

Answer 56

Phenylketonuria (PKU)

Question 57

Rib notching

Answer 57

Coarctation of the aorta

Question 58

Boot-shaped heart

Answer 58

Tetralogy of Fallot

Question 59

Couer en sabot

Answer 59

Tetralogy of Fallot

Question 60

"Wall to wall" Box-shaped heart

Answer 60

Ebstein's anomaly

Question 61

Snowman Figure of 8

Answer 61

TAPVR

Question 62

Uroporphyrinogen decarboxylase

Answer 62

Porphyria cutanea tarda

Question 63

Most common porphyria Familial (+) photosensitivity

Answer 63

Porphyria cutanea tarda

Question 64

Kayser Flescher rings

Answer 64

Wilson disease

Question 65

Membrane-bound Cu-binding ATPase

Answer 65

Wilson disease

Question 66

Tyrosinase

Answer 66

Albinism

Question 67

Tyrosinase deficiency

Answer 67

Vitiligo

Question 68

Phosphofructokinase (PFK)

Answer 68

Tarui disease

Question 69

Spingomyelinase

Answer 69

Niemann-Pick

Question 70

Spingomyelin Die by 3 yrs old

Answer 70

Niemann-Pick

Question 71

Superoxide dismutase

Answer 71

Amyotropic Lateral Sclerosis

Question 72

Bird's beak appearance

Answer 72

ACHALASIA

Question 73

Double tract sign or shoulder sign

Answer 73

PYLORIC STENOSIS

Question 74

Coffee bean sign "Bent inner tube" sign

Answer 74

SIGMOID VOLVULUS

Question 75

Palla's sign

Answer 75

Pulmonary embolism

Question 76

Hampton's hump

Answer 76

Pulmonary embolism

Question 77

Deflection of mediastinum

Answer 77

Atelectasis (towards the affected side)

Question 78

Popcorn lung "Coin lesion"

Answer 78

Bronchiolitis obliterans

Question 79

Bamboo spine

Answer 79

Ankylosing spondylitis

Question 80

Overlapping of the fetal skull bones

Answer 80

Spalding sign

Question 81

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

Answer 81

Robert's sign

Question 82

Corkscrew sign

Answer 82

Diffuse esophageal spasm

Question 83

Ram's horn

Answer 83

Crohn's disease

Question 84

DOC for seizure+pregnancy

Answer 84

Phenobarbital

Question 85

DOc for active TB+pregnancy

Answer 85

INH

Question 86

DOC of Wuchereria Bancrofti

Answer 86

DEC

Question 87

DOC for hepatic encephalopathy

Answer 87

Lactulose

Question 88

DOC for migraine

Answer 88

Ergotamine

Question 89

DOC for bronchogenic carcinoma

Answer 89

Cisplatin/Cyclophosphamide + Etoposide

Question 90

DOC for pancreatic carcinoma

Answer 90

5-FU

Question 91

DOC for typhoid fever

Answer 91

Ceftriaxone

Question 92

DOC for hypothyroidism

Answer 92

Levothyroxine

Question 93

DOC for myxedema coma

Answer 93

Liothyronine

Question 94

DOC for hypertriglyceridemia

Answer 94

Fenofibrates

Question 95

DOC for Organophosphate poisoning

Answer 95

atropine or pralidoxime

Question 96

MOA of digitalis

Answer 96

Na-K-ATPase pump

Question 97

MOA of omperazole

Answer 97

H-K-ATPase pump