Diseases Flashcards
(98 cards)
1
Q
Fatal neurodegenerative diseases characterized by spongiform changes, astrocytic gliomas, and neuronal loss resulting from the deposition of insoluble protein aggregates in neural cells
A
Prions
2
Q
Type of Creutzfeldt Jakob Disease caused by the spontaneous misfolding of prion-protein in an individual.
A
Sporadic
3
Q
Type of Creutzfeldt Jakob Disease caused by an inherited mutation in the prion-protein gene.
A
Familial
4
Q
Type of Creutzfeldt Jakob Disease caused by contamination with tissue from an infected person.
A
Acquired
5
Q
This accounts for 85% of cases of Creutzfeldt Jakob Disease.
A
Sporadic
6
Q
Prions in sheep
A
Scrapie
7
Q
Prions in cattle
A
Bovine spongiform encephalopathy (BSE / Mad Cow)
8
Q
Prions in cannibalistic tribes
A
Kuru
9
Q
Most common and most important degenerative disease of the brain presenting with cerebral atrophy and dementia.
Senile plaques. Neurofibrillary bundles. β-amyloid.
A
Alzheimer’s Disease
10
Q
Form of Hgb bound to CO
Cherry pink in color
A
Carboxy-Hgb
CO has 200x greater affinity to Hgb than O2
Tx is 100% O2
11
Q
Form of Hgb that is oxidized (Fe3+), does not bind O2 as readily, but has high affinity for cyanide
Chocolate cyanosis
A
Met-Hgb
Tx is methylene blue or ascorbic acid
12
Q
Mutations in ankyrin, spectrin, band 4.1, band 3
A
Hereditary Spherocytosis
13
Q
Point mutation in both genes coding for the β-chain of Hgb from Glu to Val
A
Sickle Cell
14
Q
Single amino acid substitution in β-chain of Hgb from Glu to Lys
A
Hgb C
15
Q
β4 tetramers
A
Hgb H
16
Q
γ4-tetramers
A
Hgb Bart
17
Q
Genetic disorder affecting the structure of type 4 collagen
Hematuria is the presenting sign
Hearing loss
ESRD
A
Alport Syndrome
18
Q
Genetic disorder affecting the structure of type 7 collagen
Skin breaks and blisters from minor trauma
A
Epidermolysis Bullosa
19
Q
Mutation in the fibrillin gene Dolichostenomelia (long limbs) Arachnodactyly Aortic dilatation and dissection Ectopia lentis (upward)
A
Marfan Syndrome
20
Q
Blue sclerae
Multiple fractures
A
Collagen type 1
21
Q
Most common enzyme defect in glycolysis
A
Pyruvate kinase
22
Q
Most common cause of congenital lactic acidosis
A
Pyruvate DH
23
Q
Glycogen storage diseases type 1 – 7:
A
“Von pump for Cory, and Ardy hurt Tarui” type 1 – vonGierke “Von” type 2 – Pompe “pump” type 3 – Forbe/Cori “for Cori type 4 – Andersen “and” type 5 – Ardle “Ardy” type 6 – Hers “hurt” type 7 – Tarui “Tarui”
24
Q
Glycogen storage disease
Heart failure by 2yo
High glycogen in lysosomes
A
Pompe
25
Glycogen storage disease
Heart failure by 5yo
High polysaccharide with few branch points
Andersen
26
Glycogen storage disease
| High glycogen in liver and renal tubule cells
von Gierke
27
Glycogen storage disease
Poor exercise tolerance
Myoglobinuria
McArdle
28
Glycogen storage disease
Poor exercise tolerance
Hemolytic anemia
Tarui
29
Galactosemia
Galactosuria
Cataracts in early childhood
Galactokinase deficiency
30
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Galactosemia
Galactosuria
Cataract in infancy
Jaundice
Severe mental retardation
Liver damage
POF in female
```
Classic galactosemia
Galactose-1-phosphate-uridyl transferase (GALT) deficiency
31
Fructosuria
| Asymptomatic
Essential fructosuria
Fructokinase deficiency
32
Fructosuria
Profound hypoglycemia
Jaundice
Death
Hereditary fructose intolerance
Aldolase B deficiency
33
Flatulence and diarrhea after ingestion of diary products
Lactase deficiency
34
Severe hypoglycemia
High fatty acids in the urine
SIDS
Most common inborn error of fatty acid oxidation
Medium-chain fatty acyl CoA DH deficiency (MCAD)
35
Caused by eating unripe fruit of the akee tree
Jamaican Vomiting Sickness
36
High phytanic acid
Refsum Disease
Phytanoyl-CoA hydroxylase deficiency
37
High very-long-chain, saturated, unbranched fatty acids in the liver and CNS
```
Craniofacial dysmorphism
Mental retardation
Jaundice
Hypotonia
Early death
```
Zellweger Syndrome
Cerebrohepatorenal Syndrome
Absence of peroxisomes in all tissues
38
Very low mineralocorticoid and glucocorticoid
| High androgen
21 α-hydroxylase deficiency
Most common form of CAH
39
Low cortisol, aldosterone, and corticosterone
Fluid retention
Low-renin hypertension
High androgen
11 β1-hydroxylase deficiency
40
Defective LDL receptor (Apo B-100 receptor)
Xanthoma of the achilles
Corneal arcus
Familial hypercholesterolemia
| Hyperlipoproteinemia Type 2a
41
Defect in the loading of Apo B with lipid
Abetalipoproteinemia
No chylomicrons or VLDL
42
Low or near absence of HDL
Tangier disease
Fish-eye disease
Familial Alpha-lipoprotein deficiency
Apo A-1 deficiency
43
Most severe form of hereditary hyperammonemia
Carbamoyl phosphate synthetase-1 deficiency
44
Most common form of hereditary hyperammonemia
Ornithine transcarbomylase deficiency
45
Musty body odor
Severe mental retardation
Fair skin eczema
Phenylketonuria
Results from decreased phenylalanine hydroxylase or tetrahydrobiopterin
46
Urine turn black on standing
Onchronosis
Debilitating arthralgias
Alkaptonuria
Homogentisate oxidase deficiency
47
Result from absence of copper-requiring enzyme tyrosinase or defective tyrosine transporters
Increased risk for cancer
Albinism
Defective melanin synthesis from tyrosine
48
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Ectopia lentis (downward)
Faulty bone development and osteoporosis
Mental retardation
Myocardial infarction
Stroke in children
```
Homocystinuria
49
Defect of renal tubular amino acid transporter for ornithine, lysine, and arginine in the PCT
Kidney stones and causes staghorn calculi
Cystinuria
50
Stroke at 1 month to 1 year of age
Seizure
Encephalopathy
Methylmalonyl CoA Mutase Deficiency
51
Mental retardation
Ketoacidosis
Death in infancy
High levels of leucine in the blood
Maple Syrup Urine Disease
α-ketoacid DH deficiency leading to blocked degradation of branched amino acids
52
High urinary ALA and free erythrocyte porphyrins
Hypochromic anemia with basophilic stippling of RBC
Claw hand and wrist drop
Memory loss
Lines in gums
Deposits in epiphyses
Lead poisoning
53
Worsening of anxiety patient after giving barbiturates
| Increased urinary ALA and PBG
Acute intermittent porphyria
54
Defect in ferrochelatase
| Photosensitivity
Protoporphyria
55
Direct hyperbilirubinemia
Biliary tree obstruction
Dubin-Johnson Syndrome
Rotor Syndrome
56
Indirect hyperbilirubinemia
Hemolytic anemia
Physiologic jaundice
Crigler-Najjar Syndrome
Gilbert Syndrome
57
```
Vitamin disorder with:
Pseudotumor cerebri
Hepatomegaly
Alopecia
Excessive dryness of skin
Thickening of long bones
```
Hypervitaminosis A
58
Nyctalopia
Xerophthalmia
Keratinization of skin
Vitamin A deficiency
59
Confusion
Ophthalmoplegia / Nystagmus
Ataxia
Wernicke encephalopathy
Vit B1 deficiency
60
Amnesia
Confabulation
Hallucination
Alcoholics
Korsakoff Syndrome
Vit B1 deficiency
61
Diarrhea
Dermatitis
Dementia
Isoniazid use
Pellagra
Vit B3 deficiency
62
Functional vitamin deficiency from Vit B12 deficiency
Folate trap
63
Subacute combined degeneration of the spinal cord
Vit B12 deficiency
64
Sore spongy gums
Poor wound healing
Bone fracture
Scurvy
65
Test for Vit B1 deficiency
Erythrocyte transketolase activity assay
66
Test for Vit B6 deficiency
Erythrocyte transaminase assay
67
Test for Vit B9 deficiency
Formiminoglutamic acid excretion test
68
Test for Vit B12 deficiency
Schilling test
| Methylmalonic acid test
69
Most common lysosomal storage disorder
| Most common form is chronic
Gaucher disease
70
Micronodular cirrhosis
Diabetes mellitus
Abnormal skin pigmentation
Increased risk of HCC
Hereditary Hemochromatosis
71
Diarrhea
Dermatitis
Alopecia
Acrodermatitis enteropathica
Impaired intestinal zinc absorption (rare recessive)
72
Leads to dermatitis, poor wound healing, hair loss, neuropsychiatric impairments, and testicular atrophy
Zinc deficiency
73
X-linked recessive disorder caused by deficiency of an ATP-dependent membrane transporter for copper
Kinky or brittle hair
Growth Retardation
Menkes Disease
74
Intestinal absorption of copper is intact but biliary excretion is blocked
Kayser-Fleischer rings
Wilson disease
Hepatolenticular degeneration
Tx is Penicillamine
75
Low selenium content causing cardiomyopathy
Keshan Disease
76
Self-mutilation
Mental retardation
Gout
Lesch-Nyhan Syndrome
HGPRT deficiency
77
Enzyme deficiency in severe combined immunodeficiency
Adenosine deaminase
78
GI symptoms
Acute liver failure
History of eating mushroom
What is inhibited?
RNA polymerase II
This is a case of Amanita Mushroom Poisoning
Amanita phalloides contains the peptide toxin α-amanitin which inhibits the RNA polymerase II
79
Type of point mutation
Pyrimidine-pyrimidine or
Purine-purine
Transition
80
Type of point mutation
Pyrimidine-purine or
Purine-pyrimidine
Transversion
81
Type of point mutation
New codon codes for same amino acid
Silent
82
Type of point mutation
New codon codes for stop codon
Nonsense
83
Type of mutation
Deletion or addition of bases that should not be multiples of 3
Results in shorter than normal, usually non-functional protein
Ex. If 1-2-3 is normal
1-2-__-1-2-3 or 1-2-3-4-1-2-3
Frame shift mutation
84
Examples of splice donor or acceptor mutation
Tay-Sachs
Gaucher
β-thalassemia
85
Examples of triple repeat expansion mutation
Huntington Disease
Fragile X Syndrome
Myotonic Dystrophy
86
Increased urinary uroporphyrin I
| Photosensitivity
Porphyria cutanea tarda
Defect in the uroporphyrinogen decarboxylase
87
X-linked sideroblastic anemia
ALA synthase II
88
Defect in Sphingomyelinase
Accumulation of Sphingomyelin
(+) Cherry red spot in the retina
(+) hepatosplenomegaly
Nieman-Pick Disease
(Sulfatidoses)
(+) hepatosplenomegaly
(–) Cherry red spot in the retina
in Tay-Sachs disease (Sphingolipidoses)
89
Defect in β-Glucosidase / Glucocerebrosidase
Accumulation of Glucosylceramide / Glucocerebroside
```
Gaucher Disease
(Sulfatidoses)
```
Harper 30th / Robbin 9th
90
Defect in β-Galactosidase / Galactosylceramidase
Accumulation of Galactosylceramide / Galactocerebroside
```
Krabbe Disease
(Sulfatidoses)
```
Harper 30th / Robbin 9th
91
Defect in Ceramidase
Accumulation of Ceramide
```
Farber Disease
(Sulfatidoses)
```
92
Defect in α-Galactosidase / α-Galactosidase A
Accumulation of Globotriaosylceramide / Ceramide trihexoside
```
Fabry Disease
(Sulfatidoses)
```
Harper 30th / Robbin 9th
93
Defect in liver and muscle Debranching enzyme
Accumulation of Limit Dextrin
Forbe or Cori disease, Limit dextrinosis
(Type 3a Glycogenosis)
Harper 30th Table 18-2
94
Defect in Hexosaminidase, α subunit
Accumulation of Ganglioside
(+) Cherry red spot in the retina
(–) hepatosplenomegaly
Tay-Sachs disease
(Sphingolipidoses)
(+) Cherry red spot in the retina
(+) hepatosplenomegaly
in Nieman-Pick Disease (Sulfatidoses)
95
Defect in Hexosaminidase, β subunit
Accumulation of Ganglioside, globoside
```
Sandhoff disease
(Sphingolipidoses)
```
96
Defect in α-L-Iduronidase
Accumulation of Dermatan sulfate, Heparan sulfate
Corneal involvement
Hurler's Disease
| Mucopolysaccharidoses I
97
Defect in L-Iduronosulfate sulfatase
Accumulation of Dermatan sulfate, Heparan sulfate
X-linked
Hunter's Disease
| Mucopolysaccharidoses II
98
Defect in enzymes essential for formation of mannose-6-phosphate
Accumulation of mucopolysaccharide, glycolipid
I-Cell disease / Pseudo-Hurler polydystrophy
| Mucolipidoses II
