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Biochem > Metabolic disorders > Flashcards

Metabolic disorders Flashcards

1
Q

Wet Beriberi disease is a type of

A

Thiamine deficiency

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2
Q

Thiamine deficiency causes impairment of this enzyme

A

Pyruvate dehydrogenase

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3
Q

Wernicke-Korsakoff syndrome is a type of

A

Thiamine deficiency

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4
Q

Two characterizations of Wernicke-Korsakoff syndrome

A

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

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5
Q

Characteristic of Wernicke-Korsakoff syndrome that describes reversible mental derangements and delirium

A

Wernicke encephalopathy

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6
Q

Characteristic of Wernicke-Korsakoff syndrome that describes the chronic stage

A

Korsakoff psychosis

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7
Q

3 main symptoms of thiamine deficiency

A

Energy deficiency
Lactic acidosis
Neurological damage

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8
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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9
Q

Leigh syndrome largely affects this part of the body

A

Neurological

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10
Q

Does Wernicke-Korsakoff syndrome involve lactic acidosis?

A

Yes

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11
Q

Does Leigh Syndrome involve lactic acidosis?

A

Yes

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12
Q

Arsenite inhibits enzymes using this molecule

A

Lipoic acid

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13
Q

Enzymes inhibited by arsenite

A

Pyruvate dehydrogenase
Alpha-ketoglutarate dehydrogenase

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14
Q

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

A

Type I: Von Gierke disease

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15
Q

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

A

Type II: Pompe disease

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16
Q

Condition caused by deficiency in Amylo-1,6-glucosidase (glycogen debranching enzyme)

A

Type III: Cori disease

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17
Q

Condition caused by deficiency in branching enzyme (alpha-1,4 –> alpha-1,6)

A

Type IV: Andersen disease

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18
Q

Condition caused by deficiency in glycogen phosphorylase in muscle

A

Type V: McArdle disease

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19
Q

Condition caused by deficiency in glycogen phosphorylase in liver

A

Typce VI: Hers disease

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20
Q

Condition caused by deficiency in phosphofructokinase in muscle

A

Type VII glycogen disease

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21
Q

Condition caused by deficiency of phosphofructokinase in liver

A

Type VIII glycogen disease

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22
Q

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

A

Liver and kidney

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23
Q

Organ(s) affected in Type II: Pompe disease

A

All organs

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24
Q

Organ(s) affected in Type III: Cori disease

A

Muscle and liver

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25
Q

Organ(s) affected in Type IV: Andersen disease

A

Liver and spleen

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26
Q

Organ(s) affected in Type V: McArdle disease

A

Muscle

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27
Q

Organ(s) affected in Type VI: Hers disease

A

Liver

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28
Q

Organ(s) affected in Type VII glycogen disease

A

Muscle

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29
Q

Organ(s) affected in Type VIII glycogen disease

A

Liver

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30
Q

Effect on glycogen amount/structure in Type I: Von Gierke disease

A

Increased amount
Normal structure

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31
Q

Effect on glycogen amount/structure in Type II: Pompe disease

A

Massive increase in amount
Normal structure

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32
Q

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

A

Increased amount
Shorter outer branches

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33
Q

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

A

Normal amount
Very long outer branches

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34
Q

Effect on glycogen amount/structure in Type V: McArdle disease

A

Moderately increased amount
Normal structure

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35
Q

Effect on glycogen amount/structure in Type VI: Hers disease

A

Increased amount
Normal structure

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36
Q

Effect on glycogen amount/structure in Type VII glycogen disease

A

Increased amount
Normal structure

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37
Q

Effect on glycogen amount/structure in Type VIII glycogen disease

A

Increased amount
Normal structure

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38
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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39
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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40
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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41
Q

Enzyme deficient in Type V: McArdle syndrome

A

Skeletal muscle glycogen phosphorylase

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42
Q

Enzyme deficient in Type VI: Hers disease

A

Liver glycogen phosphorylase

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43
Q

Enzyme deficient in Type II: Pompe disease

A

Lysosomal alpha(1–>4) glucosidase

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44
Q

Enzyme deficient in Type III: Cori disease

A

Debranching enzyme

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45
Q

Enzyme deficient in Type Ia: Von Gierke disease

A

Glucose-6-phosphatase

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46
Q

Enzyme deficient in Type Ib glycogen disease

A

Glucose-6-phosphate translocase

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47
Q

Enzyme deficient in Type VII glycogen disease

A

Muscle phosphofructokinase

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48
Q

Enzyme deficient in Type VIII glycogen disease

A

Liver phosphofructokinase

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49
Q

Name for Type I glycogen disease

A

Von Gierke disease

50
Q

Name for Type II glycogen disease

A

Pompe disease

51
Q

Name for Type III glycogen disease

A

Cori disease

52
Q

Name for Type IV glycogen disease

A

Andersen disease

53
Q

Name for Type V glycogen disease

A

McArdle disease

54
Q

Name for Type VI glycogen disease

A

Hers disease

55
Q

Mitochondrial disease involving abnormal eye movements, loss of hearing, ataxia, lactic acidosis, progressive dementia

A

MERRF: myoclonic epilepsy with ragged red fibers

56
Q

Mitochondrial disease involving stroke-like episodes, abnormal motor and cognitive development, lactic acidosis, cardiomyopathy, deafness, dementia, renal disease

A

MELAS: mitochondrial encephalopathy with lactic acidosis and stroke

57
Q

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

A

Leber’s hereditary optic neuropathy (LHON)

58
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

59
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

60
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

61
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

62
Q

Zellweger syndrome is caused by an abcense of these

A

Peroxisomes

63
Q

Zellweger syndrome involves an accumulation of this

A

Very long chain fatty acids

64
Q

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

A

Adrenoleukodystrophy (ALD)

65
Q

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

A

Refsum’s disease

66
Q

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

A

Phytanic acid (breakdown product from chlorophyll)

67
Q

Refsum’s disease involves a defect in this process

A

Alpha oxidation

68
Q

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

A

High levels of ketone bodies
Acidosis
Hyperglycemia

69
Q

Condition caused by lack of medium chain Acyl CoA dehydrogenase activity
Hypoglycemia, reduced ketone body formation under fasting conditions

A

MCAD deficiency

70
Q

MCAD deficiency has this effect on ketone body formation

A

Reduced under fasting conditions

71
Q

Condition caused by lack of membrane transporter for carnitine

A

Primary carnitine deficiency

72
Q

Condition caused by lack of long chain acyl CoA dehydrogenase activity
Involves hypoglycemia

A

LCAD deficiency

73
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

74
Q

Jamaican vomiting disorder involves inhibition of this

A

Carnitine

75
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

76
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

77
Q

Tay-Sachs disease involves an accumulation of this

A

Gangliosides (Gm2)

78
Q

Tay-Sachs disease involves a deficiency of this enzyme

A

Hexosaminidase A

79
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

80
Q

Gaucher disease involves an accumulation of this

A

Gluco-cerebrosides

81
Q

Gaucher disease involves a deficiency of this enzyme

A

Beta-glucosidase

82
Q

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

A

Gaucher disease

83
Q

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

A

Glucocerebroside

84
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

85
Q

Sandhoff disease involves an accumulation of this

A

Gm2 and globosides

86
Q

Sandhoff disease involves a deficiency in this enzyme

A

Beta-hexosaminidase A and B

87
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

88
Q

Fabry disease involves an accumulation of this

A

Globosides

89
Q

Fabry disease involves a deficiency in this enzyme

A

Alpha-glucosidase

90
Q

Reddish-purple skin rash is seen in this sphingolipidosis

A

Fabry disease

91
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

92
Q

Niemann-Pick disease involves an accumulation of this

A

Sphingomyelin

93
Q

Niemann-Pick disease involves a deficiency of this enzyme

A

Sphingomyelinase

94
Q

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

A

Sphingomyelin

95
Q

Foaming-appearing cells are seen in this sphingolipidosis

A

Niemann-Pick disease

96
Q

Adult Vitamin D deficiency

A

Osteomalacia

97
Q

Childhood Vitamin D deficiency

A

Rickets

98
Q

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

A

Abetalipoproteinemia

99
Q

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

A

All decreased/low

100
Q

Pancreatic failure, lack of bile salts, and intestinal diseases are possible causes of this

A

Fat malabsorption

101
Q

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

A

D, E, A, K

102
Q

Condition where cholesterol cannot be released from the lysosome

A

Niemann-Pick Type C disease

103
Q

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

A

Cholesterol

104
Q

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

A

Type I hyperlipoproteinemia
(Familial hyperchylomicronemia)

105
Q

Type I hyperlipoproteinemia involves a deficiency or defect in what?

A

ApoC-II or lipoprotein lipase

106
Q

Levels of chylomicrons and TGs in Type I hyperlipoproteinemia

A

Both increased

107
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)

108
Q

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

A

LDL receptor

109
Q

Levels of cholesterol, TGs, LDL, and VLDL in Type IIa and IIb hyperlipoproteinemia

A

All high
(TGs normal in IIa)

110
Q

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

A

Type III hyperlipoproteinemia
(Familial dysbetalipoproteinemia)

111
Q

Type III hyperlipoproteinemia is caused by a defect in this

A

ApoE

112
Q

Levels of cholesterol, chylomicron remnants, TGs, and IDL in Type III hyperlipoproteinemia

A

All high

113
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)

114
Q

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

A

VLDLs

115
Q

Condition that is a combination of type I and IV hyperlipoproteinemia
High chylomicrons
High VLDL
High TGs
Normal LDL

A

Type V hyperlipoproteinemia

116
Q

Levels of chylomicrons, VLDL, TGs, and LDL in Type V hyperlipoproteinemia

A

High chylomicrons, VLDL, and TGs
Normal LDL

117
Q

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

A

Tangier disease

118
Q

Levels of HDL in Tangier disease

A

Low

119
Q

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

A

Hypoalphalipoproteinemia

120
Q

Levels of HDL in Hypoalphalipoproteinemia

A

Low HDL

Biochem (21 decks)

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