Diseases Flashcards Preview

[Topnotch Biochemistry 2017] > Diseases > Flashcards

Flashcards in Diseases Deck (98):
1

Fatal neurodegenerative diseases characterized by spongiform changes, astrocytic gliomas, and neuronal loss resulting from the deposition of insoluble protein aggregates in neural cells

Prions

2

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

Sporadic

3

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

Familial

4

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

Acquired

5

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

Sporadic

6

Prions in sheep

Scrapie

7

Prions in cattle

Bovine spongiform encephalopathy (BSE / Mad Cow)

8

Prions in cannibalistic tribes

Kuru

9

Most common and most important degenerative disease of the brain presenting with cerebral atrophy and dementia.

Senile plaques. Neurofibrillary bundles. β-amyloid.

Alzheimer's Disease

10

Form of Hgb bound to CO

Cherry pink in color

Carboxy-Hgb

CO has 200x greater affinity to Hgb than O2

Tx is 100% O2

11

Form of Hgb that is oxidized (Fe3+), does not bind O2 as readily, but has high affinity for cyanide

Chocolate cyanosis

Met-Hgb

Tx is methylene blue or ascorbic acid

12

Mutations in ankyrin, spectrin, band 4.1, band 3

Hereditary Spherocytosis

13

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

Sickle Cell

14

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

Hgb C

15

β4 tetramers

Hgb H

16

γ4-tetramers

Hgb Bart

17

Genetic disorder affecting the structure of type 4 collagen

Hematuria is the presenting sign
Hearing loss
ESRD

Alport Syndrome

18

Genetic disorder affecting the structure of type 7 collagen

Skin breaks and blisters from minor trauma

Epidermolysis Bullosa

19

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

Marfan Syndrome

20

Blue sclerae
Multiple fractures

Collagen type 1

21

Most common enzyme defect in glycolysis

Pyruvate kinase

22

Most common cause of congenital lactic acidosis

Pyruvate DH

23

Glycogen storage diseases type 1 – 7:

“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

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

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

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

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)