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[Topnotch Biochemistry 2017] > Diseases > Flashcards

Diseases Flashcards

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

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2
Q

Type of Creutzfeldt Jakob Disease caused by the spontaneous misfolding of prion-protein in an individual.

A

Sporadic

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3
Q

Type of Creutzfeldt Jakob Disease caused by an inherited mutation in the prion-protein gene.

A

Familial

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4
Q

Type of Creutzfeldt Jakob Disease caused by contamination with tissue from an infected person.

A

Acquired

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5
Q

This accounts for 85% of cases of Creutzfeldt Jakob Disease.

A

Sporadic

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6
Q

Prions in sheep

A

Scrapie

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7
Q

Prions in cattle

A

Bovine spongiform encephalopathy (BSE / Mad Cow)

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8
Q

Prions in cannibalistic tribes

A

Kuru

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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

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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

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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

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12
Q

Mutations in ankyrin, spectrin, band 4.1, band 3

A

Hereditary Spherocytosis

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13
Q

Point mutation in both genes coding for the β-chain of Hgb from Glu to Val

A

Sickle Cell

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14
Q

Single amino acid substitution in β-chain of Hgb from Glu to Lys

A

Hgb C

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15
Q

β4 tetramers

A

Hgb H

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16
Q

γ4-tetramers

A

Hgb Bart

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17
Q

Genetic disorder affecting the structure of type 4 collagen

Hematuria is the presenting sign
Hearing loss
ESRD

A

Alport Syndrome

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18
Q

Genetic disorder affecting the structure of type 7 collagen

Skin breaks and blisters from minor trauma

A

Epidermolysis Bullosa

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19
Q 
Mutation in the fibrillin gene
Dolichostenomelia (long limbs)
Arachnodactyly
Aortic dilatation and dissection
Ectopia lentis (upward)
A

Marfan Syndrome

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20
Q

Blue sclerae

Multiple fractures

A

Collagen type 1

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21
Q

Most common enzyme defect in glycolysis

A

Pyruvate kinase

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22
Q

Most common cause of congenital lactic acidosis

A

Pyruvate DH

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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”
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24
Q

Glycogen storage disease
Heart failure by 2yo
High glycogen in lysosomes

A

Pompe

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25
Q

Glycogen storage disease
Heart failure by 5yo
High polysaccharide with few branch points

A

Andersen

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26
Q

Glycogen storage disease

High glycogen in liver and renal tubule cells

A

von Gierke

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27
Q

Glycogen storage disease
Poor exercise tolerance
Myoglobinuria

A

McArdle

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28
Q

Glycogen storage disease
Poor exercise tolerance
Hemolytic anemia

A

Tarui

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29
Q

Galactosemia
Galactosuria
Cataracts in early childhood

A

Galactokinase deficiency

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30
Q 
Galactosemia
Galactosuria
Cataract in infancy
Jaundice
Severe mental retardation
Liver damage
POF in female
A

Classic galactosemia

Galactose-1-phosphate-uridyl transferase (GALT) deficiency

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31
Q

Fructosuria

Asymptomatic

A

Essential fructosuria

Fructokinase deficiency

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32
Q

Fructosuria
Profound hypoglycemia
Jaundice
Death

A

Hereditary fructose intolerance

Aldolase B deficiency

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33
Q

Flatulence and diarrhea after ingestion of diary products

A

Lactase deficiency

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34
Q

Severe hypoglycemia
High fatty acids in the urine
SIDS

Most common inborn error of fatty acid oxidation

A

Medium-chain fatty acyl CoA DH deficiency (MCAD)

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35
Q

Caused by eating unripe fruit of the akee tree

A

Jamaican Vomiting Sickness

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36
Q

High phytanic acid

A

Refsum Disease

Phytanoyl-CoA hydroxylase deficiency

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37
Q

High very-long-chain, saturated, unbranched fatty acids in the liver and CNS

Craniofacial dysmorphism
Mental retardation
Jaundice
Hypotonia
Early death
A

Zellweger Syndrome
Cerebrohepatorenal Syndrome

Absence of peroxisomes in all tissues

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38
Q

Very low mineralocorticoid and glucocorticoid

High androgen

A

21 α-hydroxylase deficiency

Most common form of CAH

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39
Q

Low cortisol, aldosterone, and corticosterone
Fluid retention
Low-renin hypertension
High androgen

A

11 β1-hydroxylase deficiency

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40
Q

Defective LDL receptor (Apo B-100 receptor)
Xanthoma of the achilles
Corneal arcus

A

Familial hypercholesterolemia

Hyperlipoproteinemia Type 2a

41
Q

Defect in the loading of Apo B with lipid

A

Abetalipoproteinemia

No chylomicrons or VLDL

42
Q

Low or near absence of HDL

A

Tangier disease
Fish-eye disease
Familial Alpha-lipoprotein deficiency
Apo A-1 deficiency

43
Q

Most severe form of hereditary hyperammonemia

A

Carbamoyl phosphate synthetase-1 deficiency

44
Q

Most common form of hereditary hyperammonemia

A

Ornithine transcarbomylase deficiency

45
Q

Musty body odor
Severe mental retardation
Fair skin eczema

A

Phenylketonuria

Results from decreased phenylalanine hydroxylase or tetrahydrobiopterin

46
Q

Urine turn black on standing
Onchronosis
Debilitating arthralgias

A

Alkaptonuria

Homogentisate oxidase deficiency

47
Q

Result from absence of copper-requiring enzyme tyrosinase or defective tyrosine transporters

Increased risk for cancer

A

Albinism

Defective melanin synthesis from tyrosine

48
Q 
Ectopia lentis (downward)
Faulty bone development and osteoporosis
Mental retardation
Myocardial infarction
Stroke in children
A

Homocystinuria

49
Q

Defect of renal tubular amino acid transporter for ornithine, lysine, and arginine in the PCT

Kidney stones and causes staghorn calculi

A

Cystinuria

50
Q

Stroke at 1 month to 1 year of age
Seizure
Encephalopathy

A

Methylmalonyl CoA Mutase Deficiency

51
Q

Mental retardation
Ketoacidosis
Death in infancy
High levels of leucine in the blood

A

Maple Syrup Urine Disease

α-ketoacid DH deficiency leading to blocked degradation of branched amino acids

52
Q

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

A

Lead poisoning

53
Q

Worsening of anxiety patient after giving barbiturates

Increased urinary ALA and PBG

A

Acute intermittent porphyria

54
Q

Defect in ferrochelatase

Photosensitivity

A

Protoporphyria

55
Q

Direct hyperbilirubinemia

A

Biliary tree obstruction
Dubin-Johnson Syndrome
Rotor Syndrome

56
Q

Indirect hyperbilirubinemia

A

Hemolytic anemia
Physiologic jaundice
Crigler-Najjar Syndrome
Gilbert Syndrome

57
Q 
Vitamin disorder with:
Pseudotumor cerebri
Hepatomegaly
Alopecia
Excessive dryness of skin
Thickening of long bones
A

Hypervitaminosis A

58
Q

Nyctalopia
Xerophthalmia
Keratinization of skin

A

Vitamin A deficiency

59
Q

Confusion
Ophthalmoplegia / Nystagmus
Ataxia

A

Wernicke encephalopathy

Vit B1 deficiency

60
Q

Amnesia
Confabulation
Hallucination
Alcoholics

A

Korsakoff Syndrome

Vit B1 deficiency

61
Q

Diarrhea
Dermatitis
Dementia
Isoniazid use

A

Pellagra

Vit B3 deficiency

62
Q

Functional vitamin deficiency from Vit B12 deficiency

A

Folate trap

63
Q

Subacute combined degeneration of the spinal cord

A

Vit B12 deficiency

64
Q

Sore spongy gums
Poor wound healing
Bone fracture

65
Q

Test for Vit B1 deficiency

A

Erythrocyte transketolase activity assay

66
Q

Test for Vit B6 deficiency

A

Erythrocyte transaminase assay

67
Q

Test for Vit B9 deficiency

A

Formiminoglutamic acid excretion test

68
Q

Test for Vit B12 deficiency

A

Schilling test

Methylmalonic acid test

69
Q

Most common lysosomal storage disorder

Most common form is chronic

A

Gaucher disease

70
Q

Micronodular cirrhosis
Diabetes mellitus
Abnormal skin pigmentation
Increased risk of HCC

A

Hereditary Hemochromatosis

71
Q

Diarrhea
Dermatitis
Alopecia

A

Acrodermatitis enteropathica

Impaired intestinal zinc absorption (rare recessive)

72
Q

Leads to dermatitis, poor wound healing, hair loss, neuropsychiatric impairments, and testicular atrophy

A

Zinc deficiency

73
Q

X-linked recessive disorder caused by deficiency of an ATP-dependent membrane transporter for copper

Kinky or brittle hair
Growth Retardation

A

Menkes Disease

74
Q

Intestinal absorption of copper is intact but biliary excretion is blocked

Kayser-Fleischer rings

A

Wilson disease
Hepatolenticular degeneration

Tx is Penicillamine

75
Q

Low selenium content causing cardiomyopathy

A

Keshan Disease

76
Q

Self-mutilation
Mental retardation
Gout

A

Lesch-Nyhan Syndrome

HGPRT deficiency

77
Q

Enzyme deficiency in severe combined immunodeficiency

A

Adenosine deaminase

78
Q

GI symptoms
Acute liver failure
History of eating mushroom

What is inhibited?

A

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
Q

Type of point mutation

Pyrimidine-pyrimidine or
Purine-purine

A

Transition

80
Q

Type of point mutation

Pyrimidine-purine or
Purine-pyrimidine

A

Transversion

81
Q

Type of point mutation

New codon codes for same amino acid

82
Q

Type of point mutation

New codon codes for stop codon

83
Q

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

A

Frame shift mutation

84
Q

Examples of splice donor or acceptor mutation

A

Tay-Sachs
Gaucher
β-thalassemia

85
Q

Examples of triple repeat expansion mutation

A

Huntington Disease
Fragile X Syndrome
Myotonic Dystrophy

86
Q

Increased urinary uroporphyrin I

Photosensitivity

A

Porphyria cutanea tarda

Defect in the uroporphyrinogen decarboxylase

87
Q

X-linked sideroblastic anemia

A

ALA synthase II

88
Q

Defect in Sphingomyelinase

Accumulation of Sphingomyelin

(+) Cherry red spot in the retina
(+) hepatosplenomegaly

A

Nieman-Pick Disease
(Sulfatidoses)

(+) hepatosplenomegaly
(–) Cherry red spot in the retina
in Tay-Sachs disease (Sphingolipidoses)

89
Q

Defect in β-Glucosidase / Glucocerebrosidase

Accumulation of Glucosylceramide / Glucocerebroside

A 
Gaucher Disease
(Sulfatidoses)

Harper 30th / Robbin 9th

90
Q

Defect in β-Galactosidase / Galactosylceramidase

Accumulation of Galactosylceramide / Galactocerebroside

A 
Krabbe Disease 
(Sulfatidoses)

Harper 30th / Robbin 9th

91
Q

Defect in Ceramidase

Accumulation of Ceramide

A 
Farber Disease
(Sulfatidoses)
92
Q

Defect in α-Galactosidase / α-Galactosidase A

Accumulation of Globotriaosylceramide / Ceramide trihexoside

A 
Fabry Disease
(Sulfatidoses)

Harper 30th / Robbin 9th

93
Q

Defect in liver and muscle Debranching enzyme

Accumulation of Limit Dextrin

A

Forbe or Cori disease, Limit dextrinosis
(Type 3a Glycogenosis)

Harper 30th Table 18-2

94
Q

Defect in Hexosaminidase, α subunit

Accumulation of Ganglioside

(+) Cherry red spot in the retina
(–) hepatosplenomegaly

A

Tay-Sachs disease
(Sphingolipidoses)

(+) Cherry red spot in the retina
(+) hepatosplenomegaly
in Nieman-Pick Disease (Sulfatidoses)

95
Q

Defect in Hexosaminidase, β subunit

Accumulation of Ganglioside, globoside

A 
Sandhoff disease
(Sphingolipidoses)
96
Q

Defect in α-L-Iduronidase

Accumulation of Dermatan sulfate, Heparan sulfate

Corneal involvement

A

Hurler’s Disease

Mucopolysaccharidoses I

97
Q

Defect in L-Iduronosulfate sulfatase

Accumulation of Dermatan sulfate, Heparan sulfate

X-linked

A

Hunter’s Disease

Mucopolysaccharidoses II

98
Q

Defect in enzymes essential for formation of mannose-6-phosphate

Accumulation of mucopolysaccharide, glycolipid

A

I-Cell disease / Pseudo-Hurler polydystrophy

Mucolipidoses II

[Topnotch Biochemistry 2017] (7 decks)

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