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Noorda FOM > Module 7-8 Review > Flashcards

Module 7-8 Review Flashcards

1
Q

What enzyme deficiency leads to Lesch-Nyhan syndrome

A

Hypoxanthine-guanine phosphoribosyltransferase (HGPRT)

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2
Q

What is a major symptom of Lesch-Nyhan syndrome

A

Self-mutilating behavior of lips and finger biting

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3
Q

What enzyme is inhibited by allopurinol

A

Xanthine oxidase

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4
Q

What disease is characterized by needle-shaped urate crystals in joints

A

Gout

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5
Q

How do urate crystals appear under polarizing light microscopy

A

Yellow when aligned parallel to the red compensator axis, blue when perpendicular

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6
Q

What crystal deposits cause pseudogout

A

Calcium pyrophosphate dihydrate

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7
Q

What enzyme defect causes orotic aciduria

A

Uridine-5-phosphate synthase

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8
Q

What are the symptoms of orotic aciduria

A

Growth retardation, anemia, increased orotic acid in urine

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9
Q

What drug is a ribonucleotide reductase inhibitor used to treat sickle cell anemia

A

Hydroxyurea

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10
Q

What is the inheritance pattern of X-linked sideroblastic anemia

A

X-linked recessive

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11
Q

What is a key feature of X-linked sideroblastic anemia

A

Microcytic and hypochromic anemia

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12
Q

What molecule is synthesized in erythrocytes and hepatocytes

A

Heme

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13
Q

What form of iron can bind oxygen

A

Ferrous (Fe2+)

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14
Q

What type of hemoglobin has the highest oxygen affinity

A

Fetal hemoglobin (HbF)

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15
Q

Which enzyme deficiency causes methemoglobinemia

A

NADH-Cytochrome b5 reductase

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16
Q

Where does erythropoiesis occur after birth

A

Bone marrow

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17
Q

What mutation is associated with polycythemia vera

A

JAK2 gain-of-function mutation

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18
Q

What is the effect of 2,3-BPG on hemoglobin

A

Reduces oxygen binding affinity

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19
Q

What vitamin deficiency is associated with neural tube defects

A

Folic acid (Vitamin B9)

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20
Q

What condition is caused by a defect in UDP-glucuronosyltransferase (UGT1A1)

A

Crigler-Najjar syndrome

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21
Q

What is the major storage form of iron in the body

A

Ferritin

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22
Q

What gene is mutated in Hereditary Hemochromatosis Type 1

A

HFE gene

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23
Q

What is a clinical feature of Hereditary Hemochromatosis Type 2

A

Severe iron overload at an early age

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24
Q

What type of hemoglobin predominates in adults

A

Hemoglobin A (HbA)

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25
Q

What enzyme is deficient in Gaucher disease

A

Glucocerebrosidase

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26
Q

What is the inheritance pattern of Tay-Sachs disease

A

Autosomal recessive

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27
Q

What genetic mutation is associated with Lynch syndrome

A

DNA mismatch repair genes (MLH1, MSH2, EPCAM)

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28
Q

What type of DNA repair corrects small, non-helix-distorting base lesions

A

Base Excision Repair (BER)

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29
Q

What is the function of clathrin

A

Formation of coated vesicles

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30
Q

What is a symptom of Vitamin B12 deficiency

A

Pernicious anemia

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31
Q

What is the inheritance pattern of Fabry disease

A

X-linked recessive

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32
Q

What are the symptoms of Hunter syndrome

A

Mild Hurler plus aggressive behavior

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33
Q

What gene is mutated in Li-Fraumeni syndrome

A

TP53 gene (p53 protein)

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34
Q

What enzyme is missing in I-cell disease

A

N-Acetylglucosamine-1-phosphotransferase

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35
Q

What protein is absent in Duchenne Muscular Dystrophy (DMD)

A

Dystrophin

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36
Q

What vitamin deficiency causes scurvy

A

Vitamin C (ascorbic acid)

37
Q

What enzyme is required for the conversion of homocysteine to methionine

A

Methionine synthase

38
Q

What type of anemia is caused by a defect in ALAS2

A

X-linked sideroblastic anemia

39
Q

What enzyme is targeted by methotrexate

A

Dihydrofolate reductase

40
Q

What protein mediates platelet adhesion in primary hemostasis

A

von Willebrand factor

41
Q

What is the function of protein C

A

Degrades Factor V and Factor VIII

42
Q

What enzyme deficiency leads to Crigler-Najjar syndrome

A

UDP-glucuronosyltransferase (UGT1A1)

43
Q

What enzyme deficiency is associated with metachromatic leukodystrophy

A

Arylsulfatase A

44
Q

What enzyme is deficient in Niemann-Pick disease

A

Sphingomyelinase

45
Q

What is a symptom of Krabbe disease

A

Peripheral neuropathy

46
Q

What enzyme deficiency causes Hurler syndrome

A

Alpha-L-iduronidase

47
Q

What is a clinical feature of Dubin-Johnson syndrome

A

Increased serum conjugated bilirubin levels

48
Q

What is a key feature of Gaucher disease

A

Enlarged liver and spleen

49
Q

What gene is mutated in Neurofibromatosis Type 1

A

NF1 gene

50
Q

What enzyme deficiency leads to Tay-Sachs disease

A

Hexosaminidase A

51
Q

What gene mutation is associated with Peutz-Jeghers syndrome

A

STK11 gene

52
Q

What is the function of thrombin in coagulation

A

Converts fibrinogen to fibrin

53
Q

What is a symptom of hereditary hemochromatosis

A

Skin hyperpigmentation

54
Q

What enzyme is deficient in Vitamin B6 deficiency

A

ALAS enzyme

55
Q

What vitamin is required for normal levels of blood-clotting proteins

A

Vitamin K

56
Q

What is the role of ferritin in iron homeostasis

A

Iron storage

57
Q

What is a key symptom of methemoglobinemia

A

Chocolate brown blood color

58
Q

What is a feature of Hemoglobin H disease

A

Moderate to severe anemia

59
Q

What is the clinical significance of transferrin saturation

A

Indicates iron deficiency or overload

60
Q

What gene mutation causes Juvenile polyposis syndrome

A

SMAD4 or BMPR1A

61
Q

What is a function of antithrombin

A

Degrades thrombin, Factor IXa, Factor Xa

62
Q

What is a characteristic of Vitamin E deficiency

A

Rarely hemolytic anemia

63
Q

What is a key feature of hemoglobinopathy Hb S

A

Sickle cell disease

64
Q

What is the function of hydroxyurea

A

Inhibits ribonucleotide reductase

65
Q

What enzyme is inhibited by warfarin

A

Vitamin K epoxide reductase

66
Q

What is a symptom of Vitamin A deficiency

A

Night blindness

67
Q

What gene is mutated in Hereditary Diffuse Gastric Cancer syndrome

A

CDH1

68
Q

What enzyme is deficient in hereditary sideroblastic anemia

A

Delta-aminolevulinic acid (ALA) synthase 2

69
Q

What is the role of erythropoietin in the body

A

Stimulates erythropoiesis

70
Q

What is the function of tissue factor (TF) in coagulation

A

Activates extrinsic coagulation pathway

71
Q

What is a major symptom of scurvy

A

Impaired wound healing

72
Q

What enzyme is involved in the metabolism of Vitamin D

A

25-hydroxylase

73
Q

What is a symptom of pellagra

A

Dermatitis, diarrhea, dementia

74
Q

What gene mutation is associated with von Hippel-Lindau syndrome

A

VHL gene

75
Q

What type of repair mechanism fixes double-strand breaks using a homologous template

A

Homologous Recombination (HR)

76
Q

What is the role of plasmin in coagulation

A

Degrades fibrin and destroys clots

77
Q

What is a symptom of Vitamin B1 (thiamine) deficiency

A

Wernickes encephalopathy

78
Q

What is a feature of Vitamin B9 (Folic acid) deficiency

A

Megaloblastic anemia

79
Q

What enzyme deficiency leads to Fanconi anemia

A

DNA repair enzymes

80
Q

What is the role of transferrin in the body

A

Iron transport

81
Q

What is a major symptom of Wernickes encephalopathy

A

Neurological problems

82
Q

What is the function of Methionine adenosyl transferase

A

Converts methionine to S-adenosylmethionine

83
Q

What is a feature of Crigler-Najjar syndrome Type 1

A

Complete loss of enzyme activity

84
Q

What enzyme deficiency leads to Hereditary Hemochromatosis Type 4

A

SLC40A1 (Ferroportin)

85
Q

What enzyme deficiency leads to hereditary sideroblastic anemia

A

ALAS2 deficiency

86
Q

What gene is mutated in Neurofibromatosis Type 2

A

NF2 gene

87
Q

What is a symptom of Vitamin B2 (riboflavin) deficiency

A

Glossitis

88
Q

What is the function of von Willebrand factor

A

Facilitates platelet adhesion

Noorda FOM (18 decks)

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