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Noorda FOM > Module 7-8 Review > Flashcards

Module 7-8 Review Flashcards

(88 cards)

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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
What enzyme is deficient in Gaucher disease
Glucocerebrosidase
26
What is the inheritance pattern of Tay-Sachs disease
Autosomal recessive
27
What genetic mutation is associated with Lynch syndrome
DNA mismatch repair genes (MLH1, MSH2, EPCAM)
28
What type of DNA repair corrects small, non-helix-distorting base lesions
Base Excision Repair (BER)
29
What is the function of clathrin
Formation of coated vesicles
30
What is a symptom of Vitamin B12 deficiency
Pernicious anemia
31
What is the inheritance pattern of Fabry disease
X-linked recessive
32
What are the symptoms of Hunter syndrome
Mild Hurler plus aggressive behavior
33
What gene is mutated in Li-Fraumeni syndrome
TP53 gene (p53 protein)
34
What enzyme is missing in I-cell disease
N-Acetylglucosamine-1-phosphotransferase
35
What protein is absent in Duchenne Muscular Dystrophy (DMD)
Dystrophin
36
What vitamin deficiency causes scurvy
Vitamin C (ascorbic acid)
37
What enzyme is required for the conversion of homocysteine to methionine
Methionine synthase
38
What type of anemia is caused by a defect in ALAS2
X-linked sideroblastic anemia
39
What enzyme is targeted by methotrexate
Dihydrofolate reductase
40
What protein mediates platelet adhesion in primary hemostasis
von Willebrand factor
41
What is the function of protein C
Degrades Factor V and Factor VIII
42
What enzyme deficiency leads to Crigler-Najjar syndrome
UDP-glucuronosyltransferase (UGT1A1)
43
What enzyme deficiency is associated with metachromatic leukodystrophy
Arylsulfatase A
44
What enzyme is deficient in Niemann-Pick disease
Sphingomyelinase
45
What is a symptom of Krabbe disease
Peripheral neuropathy
46
What enzyme deficiency causes Hurler syndrome
Alpha-L-iduronidase
47
What is a clinical feature of Dubin-Johnson syndrome
Increased serum conjugated bilirubin levels
48
What is a key feature of Gaucher disease
Enlarged liver and spleen
49
What gene is mutated in Neurofibromatosis Type 1
NF1 gene
50
What enzyme deficiency leads to Tay-Sachs disease
Hexosaminidase A
51
What gene mutation is associated with Peutz-Jeghers syndrome
STK11 gene
52
What is the function of thrombin in coagulation
Converts fibrinogen to fibrin
53
What is a symptom of hereditary hemochromatosis
Skin hyperpigmentation
54
What enzyme is deficient in Vitamin B6 deficiency
ALAS enzyme
55
What vitamin is required for normal levels of blood-clotting proteins
Vitamin K
56
What is the role of ferritin in iron homeostasis
Iron storage
57
What is a key symptom of methemoglobinemia
Chocolate brown blood color
58
What is a feature of Hemoglobin H disease
Moderate to severe anemia
59
What is the clinical significance of transferrin saturation
Indicates iron deficiency or overload
60
What gene mutation causes Juvenile polyposis syndrome
SMAD4 or BMPR1A
61
What is a function of antithrombin
Degrades thrombin, Factor IXa, Factor Xa
62
What is a characteristic of Vitamin E deficiency
Rarely hemolytic anemia
63
What is a key feature of hemoglobinopathy Hb S
Sickle cell disease
64
What is the function of hydroxyurea
Inhibits ribonucleotide reductase
65
What enzyme is inhibited by warfarin
Vitamin K epoxide reductase
66
What is a symptom of Vitamin A deficiency
Night blindness
67
What gene is mutated in Hereditary Diffuse Gastric Cancer syndrome
CDH1
68
What enzyme is deficient in hereditary sideroblastic anemia
Delta-aminolevulinic acid (ALA) synthase 2
69
What is the role of erythropoietin in the body
Stimulates erythropoiesis
70
What is the function of tissue factor (TF) in coagulation
Activates extrinsic coagulation pathway
71
What is a major symptom of scurvy
Impaired wound healing
72
What enzyme is involved in the metabolism of Vitamin D
25-hydroxylase
73
What is a symptom of pellagra
Dermatitis, diarrhea, dementia
74
What gene mutation is associated with von Hippel-Lindau syndrome
VHL gene
75
What type of repair mechanism fixes double-strand breaks using a homologous template
Homologous Recombination (HR)
76
What is the role of plasmin in coagulation
Degrades fibrin and destroys clots
77
What is a symptom of Vitamin B1 (thiamine) deficiency
Wernickes encephalopathy
78
What is a feature of Vitamin B9 (Folic acid) deficiency
Megaloblastic anemia
79
What enzyme deficiency leads to Fanconi anemia
DNA repair enzymes
80
What is the role of transferrin in the body
Iron transport
81
What is a major symptom of Wernickes encephalopathy
Neurological problems
82
What is the function of Methionine adenosyl transferase
Converts methionine to S-adenosylmethionine
83
What is a feature of Crigler-Najjar syndrome Type 1
Complete loss of enzyme activity
84
What enzyme deficiency leads to Hereditary Hemochromatosis Type 4
SLC40A1 (Ferroportin)
85
What enzyme deficiency leads to hereditary sideroblastic anemia
ALAS2 deficiency
86
What gene is mutated in Neurofibromatosis Type 2
NF2 gene
87
What is a symptom of Vitamin B2 (riboflavin) deficiency
Glossitis
88
What is the function of von Willebrand factor
Facilitates platelet adhesion

Noorda FOM (18 decks)

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