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MF1 Conditions and drugs > Metabolic Disorders (Q4 and Q5) > Flashcards

Metabolic Disorders (Q4 and Q5) Flashcards

1
Q

Wet Beriberi disease is a type of

A

Thiamine deficiency

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2
Q

Wernicke-Korsakoff syndrome is a type of

A

Thiamine deficiency

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3
Q

Two characterizations of Wernicke-Korsakoff syndrome

A

Wernicke encephalopathy (reversible mental derangements and delirium)
Korsakoff pyschosis (chronic stage)

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4
Q

3 main symptoms of thiamine deficiency

A

Energy deficiency
Lactic acidosis
Neurological damage

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5
Q

Condition caused by mutations in one of 30+ different genes involved in energy production in the mitochondria

A

Leigh Syndrome

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6
Q

Leigh syndrome largely affects this part of the body

A

Neurological

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7
Q

Does Wernicke-Korsakoff syndrome involve lactic acidosis?

A

Yes

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8
Q

Does Leigh Syndrome involve lactic acidosis?

A

Yes

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9
Q

Arsenite inhibits enzymes using this molecule

A

Lipoic acid
(Pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase)

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10
Q

Condition caused by deficiency in glucose-6-phosphatase or its transport system

A

Type I: Von Gierke disease

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11
Q

Glycogen condition caused by deficiency in lysosomal alpha-1,4-glucosidase

A

Type II: Pompe disease

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12
Q

Condition caused by deficiency in glycogen debranching enzyme

A

Type III: Cori disease

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13
Q

Condition caused by deficiency in glycogen branching enzyme

A

Type IV: Andersen disease

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14
Q

Condition caused by deficiency in glycogen phosphorylase in muscle

A

Type V: McArdle disease

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15
Q

Condition caused by deficiency in glycogen phosphorylase in liver

A

Typce VI: Hers disease

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16
Q

Organ(s) affected in Type I: Von Gierke disease

A

Liver and kidney

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17
Q

Organ(s) affected in Type II: Pompe disease

A

All organs

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18
Q

Organ(s) affected in Type III: Cori disease

A

Muscle and liver

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19
Q

Organ(s) affected in Type IV: Andersen disease

A

Liver and spleen

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20
Q

Organ(s) affected in Type V: McArdle disease

A

Muscle

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21
Q

Organ(s) affected in Type VI: Hers disease

A

Liver

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22
Q

Effect on glycogen amount/structure in Type III: Cori disease

A

Increased amount
Shorter outer branches

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23
Q

Effect on glycogen amount/structure in Type IV: Andersen disease

A

Normal amount
Very long outer branches

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24
Q

Glycogen condition characterized by limited ability to perform strenuous exercise because of painful muscle cramps

A

Type V: McArdle disease

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25
Q

Glycogen condition characterized by massive enlargement of liver, failure to thrive, severe hypoglycemia, ketosis, hyperuricemia, hyperlipidemia

A

Type I: Von Gierke disease

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26
Q

Glycogen condition characterized by progressive cirrhosis of the liver, and liver failure usually causes death before age 2

A

Type IV: Andersen disease

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27
Q

Enzyme deficient in Type V: McArdle syndrome

A

Skeletal muscle glycogen phosphorylase

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28
Q

Enzyme deficient in Type VI: Hers disease

A

Liver glycogen phosphorylase

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29
Q

Enzyme deficient in Type II: Pompe disease

A

Lysosomal alpha(1–>4) glucosidase

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30
Q

Enzyme deficient in Type III: Cori disease

A

Debranching enzyme

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31
Q

Enzyme deficient in Type I: Von Gierke disease

A

Glucose-6-phosphatase

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32
Q

Name for Type I glycogen disease

A

Von Gierke disease

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33
Q

Name for Type II glycogen disease

A

Pompe disease

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34
Q

Name for Type III glycogen disease

A

Cori disease

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35
Q

Name for Type IV glycogen disease

A

Andersen disease

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36
Q

Name for Type V glycogen disease

A

McArdle disease

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37
Q

Name for Type VI glycogen disease

A

Hers disease

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38
Q

Autoimmune mitochondrial disease that is the leading cause of blindness in young men

A

Leber’s hereditary optic neuropathy (LHON)

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39
Q

Condition caused by a lack of NADPH oxidase in phagocytic cells
Results in susceptibility to bacterial, fungal infections and abnormal inflammatory responses

A

Chronic granulomatous disease

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40
Q

Chronic granulomatous disease involves a lack of this enzyme

A

NADPH oxidase in phagocytic cells

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41
Q

Lysosomal storage disease that is an alpha-L-iduronidase deficiency
Most severe form
Corneal clouding, mental retardation, dwarfing, coarse (dysmorphic) facial features
Degradation of dermatan sulfate and heparan sulfate are affected (so levels of these are increased)

A

Hurler syndrome

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42
Q

Hurler syndrome is a deficiency in this

A

Alpha-L-iduronidase

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43
Q

Hunter syndrome is a deficiency in this

A

Iduronate sulfatase

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44
Q

X-linked lysosomal storage disease that is an iduronate sulfatase deficiency
Degradation of dermatan sulfate and heparan sulfate are affected (so levels of these are increased)
Wide range of severity; no corneal clouding but physical deformity and mental retardation are mild to severe

A

Hunter syndrome

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45
Q

Condition caused by an absence of peroxisomes, leading to accumulation of VLCFAs
Very severe, patients frequently born blind, deaf, unable to eat, and die by 6 months of age

A

Zellweger Syndrome

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46
Q

Zellweger syndrome is caused by an absence of these

A

Peroxisomes

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47
Q

Zellweger syndrome involves an accumulation of this

A

Very long chain fatty acids

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48
Q

X-linked metabolic disorder that involves an inability to transport saturated very long chain fatty acids

A

Adrenoleukodystrophy (ALD)

49
Q

Rare autosomal recessive defect in alpha-hydroxylation of phytanic acid (breakdown product from chlorophyll)
Involves ataxia, neuropathy, retinities, pigmentosa

A

Refsum’s disease

50
Q

Refsum’s disease involved a defect in alpha-hydroxylation of this

A

Phytanic acid (breakdown product from chlorophyll)

51
Q

Refsum’s disease involves a defect in this process

A

Alpha oxidation

52
Q

Levels of ketone bodies, acid, and glucose in type 1 diabetics

A

High levels of ketone bodies
Acidosis
Hyperglycemia

53
Q

Hypoglycemia and hypoketosis indicates this condition

A

MCAD deficiency

54
Q

MCAD deficiency has this effect on ketone body formation

A

Reduced under fasting conditions

55
Q

Condition caused by inhibition of carnitine activity by hypoglycin (found in Ackee fruit)
Can lead to death because of severe hypoglycemia

A

Jamaican vomiting disorder

56
Q

Jamaican vomiting disorder involves inhibition of this

57
Q

Rare but serious condition that causes systemic issues, in particular swelling liver and brain
Unclear mechanism; involves mitochondrial injury resulting in a dysfunction in oxidative phosphorylation
Often affects children (4-12 years) and recovering from a viral infection/Chicken pox and who may also have an underlying FA metabolic disorder
Aspirin (acts as an uncoupler) and other salicylate containing medications have been linked
Symptoms: hypoglycemia, high blood anemia and acidity, diarrhea, rapid breathing, potential liver swelling with fatty deposits, unusual sleepiness and lethargy

A

Reye’s syndrome

58
Q

Autosomal recessive condition involving an accumulation of gangliosides Gm2 due to deficiency of Hexosaminidase A
Rapid, progressive, and fatal neurodegeneration
Blindness, cherry-red macula, muscular weakness, seizures

A

Tay-Sachs disease

59
Q

Tay-Sachs disease involves an accumulation of this

A

Gangliosides (Gm2)

60
Q

Tay-Sachs disease involves a deficiency of this enzyme

A

Hexosaminidase A

61
Q

Autosomal recessive condition involving an accumulation of gluco-cerebrosides due to deficiency of Beta-glucosidase
Most common lysosomal storage disease
Hepatosplenomegaly
Osteoporosis of long bones
CNS involvement in rare infantile and juvenile forms
Crumpled tissue paper appearance of the cytoplasm caused by enlarged, elongated lysosomes filled with glucocerebroside

A

Gaucher disease

62
Q

Gaucher disease involves an accumulation of this

A

Gluco-cerebrosides

63
Q

Gaucher disease involves a deficiency of this enzyme

A

Beta-glucosidase

64
Q

Condition that involves “crumpled tissue paper” appearance of the cytoplasm

A

Gaucher disease

65
Q

Crumpled tissue paper appearance of the cytoplasm can be caused by enlarged, elongated lysosomes filled with this

A

Glucocerebroside
(In Gaucher disease)

66
Q

Autosomal recessive condition involving an accumulation of Gm2 and globosides due to deficiency of beta-hexosaminidase A and B
Neurological symptoms with visceral involvement as well

A

Sandhoff Disease

67
Q

Sandhoff disease involves an accumulation of this

A

Gm2 and globosides

68
Q

Sandhoff disease involves a deficiency in this enzyme

A

Beta-hexosaminidase A and B

69
Q

X-linked condition involving an accumulation of globosides due to deficiency of alpha-glucosidase
Reddish-purple skin rash
Kidney and heart failure
Burning pain in lower extremities

A

Fabry disease

70
Q

Fabry disease involves an accumulation of this

A

Globosides

71
Q

Fabry disease involves a deficiency in this enzyme

A

Alpha-glucosidase

72
Q

Reddish-purple skin rash is seen in this sphingolipidosis

A

Fabry disease

73
Q

Autosomal recessive condition involving an accumulation of sphingomyelin due to deficiency of sphingomyelinase
Hepatosplenomegaly
Neurodegenerative course (type A)
Cherry-red macula
Involves foamy-appearing cells containing sphingomyelin

A

Niemann-Pick disease

74
Q

Niemann-Pick disease involves an accumulation of this

A

Sphingomyelin

75
Q

Niemann-Pick disease involves a deficiency of this enzyme

A

Sphingomyelinase

76
Q

Foamy-appearing cells in Niemann-Pick disease are due to an accumulation of this

A

Sphingomyelin

77
Q

Foaming-appearing cells are seen in this sphingolipidosis

A

Niemann-Pick disease

78
Q

Adult Vitamin D deficiency

A

Osteomalacia

79
Q

Osteomalacia is an adult deficiency in this

80
Q

Childhood Vitamin D deficiency

81
Q

Condition caused by a defect in microsomal transfer protein (MTP)

A

Abetalipoproteinemia

82
Q

Abetalipoproteinemia involves a defect in this protein

A

Microsomal transfer protein (MTP)

83
Q

levels of chylomicrons, VLDL, IDL, and LDL in Abetalipoproteinemia

A

All decreased/low

84
Q

Abetalipoproteinemia involves a defect in the ability to add lipid to ApoB-48 particle in the synthesis of this

A

Chylomicrons

85
Q

Fat malabsorption results in a decrease in absorption of these fat soluble vitamins

A

D, E, A, K

86
Q

Condition where cholesterol cannot be released from the lysosome

A

Niemann-Pick Type C disease

87
Q

Niemann-Pick Type C disease involves an accumulation of this in lysosomes

A

Cholesterol

88
Q

Deficiency in ApoC-II or defective lipoprotein lipase
Increased chylomicrons
Increased triacylglycerol

A

Type I hyperlipoproteinemia
(Familial hyperchylomicronemia)

89
Q

Type I hyperlipoproteinemia involves a deficiency or defect in what?

A

ApoC-II or lipoprotein lipase

90
Q

Condition where LDL receptor is completely or partially defective
Or ApoB-100 deficiency
High cholesterol
TGs normal or high
High LDL
High VLDL

A

Type IIa and IIb hyperlipoproteinemia
(Familial hypercholesterolemia)

91
Q

Type IIa and IIb hyperlipoproteinemia are caused by completely or partially defective what?

A

LDL receptor

92
Q

Condition caused by a defect in ApoE
High cholesterol
High chylomicron remnants
High TGs
High IDL

A

Type III hyperlipoproteinemia
(Familial dysbetalipoproteinemia)

93
Q

Type III hyperlipoproteinemia is caused by a defect in this

94
Q

Condition caused by reduction in the catabolism of VLDLs or increase in their synthesis
High cholesterol (slightly)
High TGs
High VLDL

A

Type IV hyperlipoproteinemia
(Familial hypertriglyceridemia)

95
Q

Type IV hyperlipoproteinemia is due to a reduction in the catabolism or increased synthesis of this

96
Q

Condition caused by a defect in transporter that supports cholesterol pickup by nascent HDLs
Low HDL

A

Tangier disease

97
Q

Levels of HDL in Tangier disease

98
Q

Condition involving an accelerated catabolism of ApoA-I and ApoA-II
Low HDL

A

Hypoalphalipoproteinemia

99
Q

Levels of HDL in Hypoalphalipoproteinemia

100
Q

Pyruvate kinase deficiency causes this type of anemia

A

Hemolytic anemia

101
Q

Arsenate gets incorporated into this glycolysis intermediate instead of phosphate, preventing the substrate level phosphorylation and removes net synthesis of ATP from glycolysis alone = big problem for RBCs
Causes Mees lines

A

Glyceraldehyde-3-phosphate

102
Q

Mees lines are indicative of this

A

Arsenic poisoning

103
Q

Autosomal recessive lack of fructokinase
Benign condition; fructose accumulates in the urine

A

Essential fructosuria

104
Q

Autosomal recessive absence of aldolase B
Leads to intracellular trapping of fructose-1-phosphate
Causes severe hypoglycemia, vomiting, jaundice, hemorrhage, hepatomegaly, renal dysfunction, hyperuricemia, and lactic acidemia

A

Hereditary fructose intolerance

105
Q

When this compound is elevated, it causes cataracts
Seen in galactokinase deficiency

A

Galactitol

106
Q

Autosomal recessive deficiency in galactose-1-p uridyl transfer (GALT) enzyme
Causes galactosemia and galactosuria, vomiting, diarrhea, and jaundice
Accumulation of galactose-1-P and galactitol in nerve, lens, liver, and kidney tissue causes liver damage, severe mental retardation, and cataracts

A

Classic galactosemia

107
Q

Avidin binds to and inhibits absorption of this

A

Biotin
(thus inhibits pyruvate carboxylase)

108
Q

Glucocorticoid that induces PEPCK synthesis, stimulating gluconeogenesis
Causes breakdown of muscle protein and hyperglycemia

A

Dexamethasone

109
Q

Dexamethasone induces this enzyme

A

PEPCK (induces its synthesis); promotes gluconeogenesis

110
Q

Rotenone (an insecticide) inhibits this

A

Complex I of ETC

111
Q

Amytal (barbiturates) inhibits this

A

Complex I of ETC

112
Q

MPTP (synthetic heroin) inhibits this

A

Complex I of ETC

113
Q

Malonate is a competitive inhibitor of this

A

Succinate (on complex II of ETC)

114
Q

Antimycin inhibits this

A

Complex III of ETC

115
Q

Cyanide inhibits this

A

Complex IV of ETC

116
Q

Indirect ETC inhibitor that blocks transport of ADP from cytosol into mitochondrial membrane via Adenine Nucleotide Translocase (ANT)
ATP builds up in mitochondria but can’t escape, nor can ADP enter
Electron transport slows

A

Atractyloside

117
Q

Indirect ETC inhibitor that blocks Fo proton channel
Stops proton movement through ATP synthase and as H+ builds up it inhibits electron transport

A

Oligomycin

118
Q

Aspirin, pentachlorophenol, and dinitrophenol are uncouplers and have this effect on the rate of oxygen consumption

A

Increase
(facilitate proton transport across the inner membrane)

MF1 Conditions and drugs (8 decks)

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