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PLE 2018 > Biochem - clinical correlates > Flashcards

Biochem - clinical correlates Flashcards

1
Q

Von Gierke Disease

A

Glucose 6 phosphatase deficiency

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2
Q

Pompe Disease

A

Lysosomal acid maltase deficiency

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3
Q

Cori Disease

A

Debranching enzyme deficiency

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4
Q

Andersen Disease

A

Branching enzyme deficiency

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5
Q

McArdle Syndrome

A

Muscle phosphorylase deficiency

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6
Q

Hers Disease

A

Liver Phosphorylase deficiency

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7
Q

Fasting hypoglycemia
Hepatomegaly in infancy
Increase in dextrin
Muscle weakness

A

Cori Disease

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8
Q

Poor exercise tolerance
Muscle cramps
Myoglobinuria but no lactic acidosis
Increase in muscle glycogen

A

McArdle Syndrome

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9
Q

Hepatomegaly

Mild hypoglycemia

A

Hers Disease

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10
Q

Hypotonia, death from heart failure by age 2

A

Pompe Disease (Juvenile)

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11
Q

Muscle dystrophy

A

Pompe Disease (Adult)

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12
Q 
Fasting hypoglycemia
Lactic acidosis
Ketosis
Hyperlipemia
Increase glycogen in liver and renal tubule cells
A

Von Gierke Disease

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13
Q

Cataracts in early childhood

A

Galacotikinase deficiency

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14
Q 
Premature ovarian failure in females
Mental retardation
Liver damage, Jaundice
Diarrhea, Vomitting
Galactosemia, Galactosuria
A 
Classic Galactosemia
(Galactose-1-phosphate-uridyl transferase deficiency)
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15
Q

Flatulence and diarrhea after ingestion of dairy products

A 
Lactose intolerance
(Lactase deficiency)
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16
Q

Intolerance of ingested sucrose

A

Sucrase-isomaltase complex deficiency

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17
Q

Increased xylulose in the urine due to deficiency of xylulose reductase

A 
Essential Pentosuria
(Xylulose reductase deficiency)
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18
Q

Hemolytic anemia after oxidative stress

A

G6PD deficiency

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19
Q

Precipitating factors of G6PD

A

Infection
Drugs
Fava beans

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20
Q

Histologic findings for G6PD

A

Heinz bodies

Bite cells

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21
Q

Severe persistent and chronic pyogenic infections caused by catalase positive bacteria

A

Chronic Granulomatous Disease

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22
Q

Deficiency in CGD

A

NADPH oxidase

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23
Q

Low LDL, Low HDL
Xanthomas
Recurrent pancreatitis

A

Familial Lipoprotein Lipase Deficiency

Lipoprotein lipase or Apo C-II

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24
Q

High LDL and cholesterol

Increased risk for atherosclerosis and coronary disease

A

Familial Hypercholesterolemia

Defective LDL receptor

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25
Q

Hypercholesterolemia
Xanthomas
Atherosclerosis

A

Familial Dysbetalipoproteinemia

Abnormal apo E

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26
Q

High VLDL, cholesterol
Subnormal LDL and HDL
Associated with CAD, T2DM, Obesity and alcoholism

A

Familial Hypertriacylglycerolemia

Overproduction of VLDL

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27
Q

Atherosclerosis leading to CAD

Thrombosis due to inhibition of fibrinolysis

A

Familial Lipoprotein excess

Elevated Lp (a) which is nearly identical to LDL

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28
Q

Beneficial to health and longevity

A

Familial hyperalpha lipoproteinemia

High HDL

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29
Q

Low triacylglycerol, accumulation of triacylglycerol in liver and intestines
Treated with large doses of fat-soluble vitamins, particularly vitamin E

A

Abetalipo proteinemia
(Defect in the loading of apo B with lipid)
(No chylomicrons or VLDL)

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30
Q

High triacylglycerol due to inactive LPL
Low LDL
Atherosclerosis in elderly

A

Familial alpha-lipoprotein deficiency

  • Tangier disease
  • Fish eye disease
  • Apo A-1 deficiencies

(Low or near absence of HDL)

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31
Q 
Tremors, slurring of speech, vomiting, BOV
Cerebral Edema
Elevated blood glutamine
Decreased BUN
Respiratory Alkalosis
A

Hyperammonemia

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32
Q

Severe mental retardation
Fair skin and eczema
Musty body odor

A

Phenylketonuria

Phenylalanine

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33
Q

Connective tissue is dark (ochronosis)
Debilitating arthralgias
Urine turns dark on standing
Osler’s sign

A

Alkaptonuria

Tyrosine

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34
Q

Absence of pigment from hair, eyes, skin

Increased risk for skin cancer

A

Albinism

Tyrosine

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35
Q 
Ectopia lentis (displaced downward)
Faulty bone development
Mental retardation
Tendency to form thrombi
MI
A

Homocystinuria

Methionine

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36
Q

Kindey stones -> Staghorn calculi

A

Cystinuria

COLA - Cystine, Ornithine, Lysine, Arginine

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37
Q

Ssizure, encephalopathy, stroke at the age of 1 month to 1 year

A

Methylmalonyl CoA Mutase Deficiency

Isoleucine, Valine, Methinone, Threonine

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38
Q

Characteristic odor imparted to the urine
Ketoacidosis
Vomiting
Mentao retardation

A

Maple Syrup Urine Disease

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39
Q

Lesh-Nyhan Syndrome

A

HGRPT deficiency

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40
Q

Lymphocytopenia

Death before age 2

A

Severe Combined Immunodeficiency

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41
Q

Orotic aciduria

A

Orotidine phosphate decarboxylase deficiency

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42
Q

Gout, self mutilation, mental retardation

A

Lesh-Nyhan Syndrome

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43
Q

Severe Combined Immunodeficiency

A

Adenosine deaminase

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44
Q

Beta hydroxybutyric acidrua

A

Dihydropyrimidine dehydrogenase deficiency

45
Q

Combined uraciluria-thyminuria

A

Beta hydroxybutyric acidrua

46
Q

Poor growth, megaloblastic anemia, Orotate in the urine

A

Orotic aciduria

47
Q

Xeroderma Pigmentosa

DNA lesion?

A

Pyrimidine dimers

48
Q

Lynch Syndrome

DNA lesion?

A

Mismatched Strand

49
Q

MUTYH associated polyposis

DNA lesion?

A

Base alterations

50
Q

SCID

DNA lesion?

A

Double Strand breaks

51
Q

Breast cancer susceptibility 1 and 2

DNA lesion?

A

Double Strand breaks

52
Q

Contains peptide toxin which inhibits RNA polymerase II

A

Amanita Mushroom

53
Q

Inactivates the eukaryotic elongation factor EF-2, preventing translocation

A

Diphtheria Toxin

54
Q

Binds to 30s subunit and interferes with initiation

A

Streptomyocin and aminoglycosides

55
Q

Prevents binding of aminoacyl-tRNA to the A site

A

Tetracycline

56
Q

Binds to the DNA template and interferes with the movement of RNA polymerase during transcription

A

Dactinomycin

57
Q

Binds to the beta subunit of bacterial DNA-dependent RNA polymerase

A

Rifampicin

58
Q

Inhibits prokaryotic peptidyltransferase

A

Chloramphenicol

59
Q

Binds to the 50s subunit and inhibits translocation

A

Clindamycin and macrolides

60
Q

Inhibits dihydrofolate reductase

A

Methotrexate

61
Q

Metabolically converted to 5-FdUMP

A

5-fluorouracil

62
Q

Inhibits Xanthine Oxidase

A

Allopurinol

63
Q

Inhibits dihydropteroate synthase

A

Sulfonamides

64
Q

Selectively inhibits bacterial dihydrofolate reductase

A

Trimethoprim

65
Q

Reversible inhibitor of IMP dehydrogenase

A

Mycophenolate

66
Q

What mutation happens in Tay-Sachs?

A

Splice donor/acceptor

67
Q

What mutation happens in Huntington Disease?

A

Triple Repeat Expansion

68
Q

What mutation happens in Myotonic Dystrophy?

A

Triple Repeat Expansion

69
Q

What mutation happens in Gaucher?

A

Splice donor/acceptor

70
Q

What mutation happens in Fragile X Syndrome?

A

Triple Repeat Expansion

71
Q

What mutation happens in beta thalassemia?

A

Splice donor/acceptor

72
Q

Peripheral neuropathy and ataxia
Retinitis pigmentosa
Abnormalities of skin and bone

A

Refsum Disease

73
Q

Liver dysfunction with jaundice
Marker mental retardation, weakness, hypotonia
Craniofacial dysmorphism
Early death

A

Zellweger Syndrome

74
Q

Jamaican Vomiting Sickness

A

Toxin hypoglycin

- inactivate medium and short chain acyl CoA dehydrogenase

75
Q

Adrenoleukodystrophy

A

Inability to transport VLCFAs across the peroxisomal membrane

76
Q

Neurodegeneration (initial apathy and behavioral change, followed by visual loss, spasticity and ataxia)
Adrenocortical insuffiency
Hypogonadism

A

Adrenoleukodystrophy

77
Q

Zellweger Syndrome

A

Absence of peroxisomes in all tissues

78
Q

Accumulation of VLCFAs in the brain, adrenals and testes

A

Adrenoleukodystrophy

79
Q

Refsum Disease

A

Deficiency of Phytanoyl-CoA-hydroxylase

80
Q

Accumulation of Phytanic acid

A

Refsum Disease

81
Q

Accumulation of very long chain, saturated, unbranched fatty acids in liver and CNS

A

Zellweger Syndrome

82
Q

Reduced fatty acid oxidation -> sever hypoglycemia, coma and even death

(Affects liver)

A

Carnitine-Palmitoyl Transferase I deficiency

83
Q

Affects cardiac and skeletal muscle

Cardiomyopathy, muscle weakness with myoglobinemia after prolonged exercise

A

Carnitine-Palmitoyl Transferase II deficiency

84
Q

Can manifest as Sudden Infant Death Syndrome

A

Medium chain fatty acyl CoA dehydrogenase deficiency

85
Q 
Mental retardation
Coarse facial features
Hepatosplenomegaly
Corneal clouding
Death in childhood
A

Hurler Syndrome

86
Q

Mental retardation
Coarse facial features
NO corneal clouding

A

Hunter Syndrome

87
Q

GAGs affected in Hunter Syndrome and Hurler Syndrome

A

Dermatan Sulfate

Heparan Sulfate

88
Q

Skeletal dysplasia and short stature
Odontoid hypoplasia
Corneal clouding
No CNS involvement

A

Morquio Syndrome

89
Q

GAGs affected in Sly Syndrome

A

Dermatan Sulfate
Heparan Sulfate
Chondroitin Sulfate

90
Q

Mental retardation

Hyperactivity

A

Sanfilippo Syndrome

91
Q

GAGs affected in Sanfilippo Syndrome

A

Heparan Sulfate

92
Q

Mental metardation
Corneal clouding
Hepatosplenomegaly
Skeletal dysplasia and short stature

A

Sanfilippo Syndrome

93
Q

Mental retardation
Cherry red spot on macula
Hepatosplenomegaly

A

Niemann-Pick Disease

94
Q

Lysosomes with onion skin

A

Tay-Sachs disease

95
Q

Mental retardation
Cherry red spot on macula
NO hepatosplenomegaly

A

Tay-Sachs disease

96
Q

Tay-Sachs disease

A

Hexosaminidase A deficiency

97
Q

Foam cells

A

Niemann-Pick Disease

98
Q

____ cells which are macrophages that resemble crumpled tissue paper

A

Gaucher disease

99
Q

Gaucher disease

A

Beta glucosidase

100
Q

Niemann-Pick disease

A

Sphingomyelinase

101
Q

Reddish purple skin rash

Kidney and heart failure

A

Fabry disease

102
Q

Most common lysosomal storage disease

A

Gaucher disease

103
Q

Lipids accumulate in joints with tissue granulomas and subcutaneous nodules
Hoarse cry
Mental retardation
Early Death

A

Farber disease

104
Q

Fabry disease

A

Alpha galactosidase

105
Q

Farber disease

A

Ceramidase

106
Q

Krabbe disease

A

Beta galactosidase

107
Q

Loss of myelin leading to muscle weakness, feeding difficulties, vision loss, seizures

A

Krabbe disease

108
Q

Sulfatides from granules that are metachromatic, nerves stain yellowish brown

A

Metachromatic leukodystrophy

109
Q

Metachromatic leukodystrohpy

A

Arylsulfatase A

PLE 2018 (9 decks)

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