Metabolic Disorders (Q4 and Q5) Flashcards
1
Q
Wet Beriberi disease is a type of
A
Thiamine deficiency
2
Q
Wernicke-Korsakoff syndrome is a type of
A
Thiamine deficiency
3
Q
Two characterizations of Wernicke-Korsakoff syndrome
A
Wernicke encephalopathy (reversible mental derangements and delirium)
Korsakoff pyschosis (chronic stage)
4
Q
3 main symptoms of thiamine deficiency
A
Energy deficiency
Lactic acidosis
Neurological damage
5
Q
Condition caused by mutations in one of 30+ different genes involved in energy production in the mitochondria
A
Leigh Syndrome
6
Q
Leigh syndrome largely affects this part of the body
A
Neurological
7
Q
Does Wernicke-Korsakoff syndrome involve lactic acidosis?
A
Yes
8
Q
Does Leigh Syndrome involve lactic acidosis?
A
Yes
9
Q
Arsenite inhibits enzymes using this molecule
A
Lipoic acid
(Pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase)
10
Q
Condition caused by deficiency in glucose-6-phosphatase or its transport system
A
Type I: Von Gierke disease
11
Q
Glycogen condition caused by deficiency in lysosomal alpha-1,4-glucosidase
A
Type II: Pompe disease
12
Q
Condition caused by deficiency in glycogen debranching enzyme
A
Type III: Cori disease
13
Q
Condition caused by deficiency in glycogen branching enzyme
A
Type IV: Andersen disease
14
Q
Condition caused by deficiency in glycogen phosphorylase in muscle
A
Type V: McArdle disease
15
Q
Condition caused by deficiency in glycogen phosphorylase in liver
A
Typce VI: Hers disease
16
Q
Organ(s) affected in Type I: Von Gierke disease
A
Liver and kidney
17
Q
Organ(s) affected in Type II: Pompe disease
A
All organs
18
Q
Organ(s) affected in Type III: Cori disease
A
Muscle and liver
19
Q
Organ(s) affected in Type IV: Andersen disease
A
Liver and spleen
20
Q
Organ(s) affected in Type V: McArdle disease
A
Muscle
21
Q
Organ(s) affected in Type VI: Hers disease
A
Liver
22
Q
Effect on glycogen amount/structure in Type III: Cori disease
A
Increased amount
Shorter outer branches
23
Q
Effect on glycogen amount/structure in Type IV: Andersen disease
A
Normal amount
Very long outer branches
24
Q
Glycogen condition characterized by limited ability to perform strenuous exercise because of painful muscle cramps
A
Type V: McArdle disease
25
Glycogen condition characterized by massive enlargement of liver, failure to thrive, severe hypoglycemia, ketosis, hyperuricemia, hyperlipidemia
Type I: Von Gierke disease
26
Glycogen condition characterized by progressive cirrhosis of the liver, and liver failure usually causes death before age 2
Type IV: Andersen disease
27
Enzyme deficient in Type V: McArdle syndrome
Skeletal muscle glycogen phosphorylase
28
Enzyme deficient in Type VI: Hers disease
Liver glycogen phosphorylase
29
Enzyme deficient in Type II: Pompe disease
Lysosomal alpha(1-->4) glucosidase
30
Enzyme deficient in Type III: Cori disease
Debranching enzyme
31
Enzyme deficient in Type I: Von Gierke disease
Glucose-6-phosphatase
32
Name for Type I glycogen disease
Von Gierke disease
33
Name for Type II glycogen disease
Pompe disease
34
Name for Type III glycogen disease
Cori disease
35
Name for Type IV glycogen disease
Andersen disease
36
Name for Type V glycogen disease
McArdle disease
37
Name for Type VI glycogen disease
Hers disease
38
Autoimmune mitochondrial disease that is the leading cause of blindness in young men
Leber’s hereditary optic neuropathy (LHON)
39
Condition caused by a lack of NADPH oxidase in phagocytic cells
Results in susceptibility to bacterial, fungal infections and abnormal inflammatory responses
Chronic granulomatous disease
40
Chronic granulomatous disease involves a lack of this enzyme
NADPH oxidase in phagocytic cells
41
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)
Hurler syndrome
42
Hurler syndrome is a deficiency in this
Alpha-L-iduronidase
43
Hunter syndrome is a deficiency in this
Iduronate sulfatase
44
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
Hunter syndrome
45
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
Zellweger Syndrome
46
Zellweger syndrome is caused by an absence of these
Peroxisomes
47
Zellweger syndrome involves an accumulation of this
Very long chain fatty acids
48
X-linked metabolic disorder that involves an inability to transport saturated very long chain fatty acids
Adrenoleukodystrophy (ALD)
49
Rare autosomal recessive defect in alpha-hydroxylation of phytanic acid (breakdown product from chlorophyll)
Involves ataxia, neuropathy, retinities, pigmentosa
Refsum's disease
50
Refsum's disease involved a defect in alpha-hydroxylation of this
Phytanic acid (breakdown product from chlorophyll)
51
Refsum's disease involves a defect in this process
Alpha oxidation
52
Levels of ketone bodies, acid, and glucose in type 1 diabetics
High levels of ketone bodies
Acidosis
Hyperglycemia
53
Hypoglycemia and hypoketosis indicates this condition
MCAD deficiency
54
MCAD deficiency has this effect on ketone body formation
Reduced under fasting conditions
55
Condition caused by inhibition of carnitine activity by hypoglycin (found in Ackee fruit)
Can lead to death because of severe hypoglycemia
Jamaican vomiting disorder
56
Jamaican vomiting disorder involves inhibition of this
Carnitine
57
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
Reye's syndrome
58
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
Tay-Sachs disease
59
Tay-Sachs disease involves an accumulation of this
Gangliosides (Gm2)
60
Tay-Sachs disease involves a deficiency of this enzyme
Hexosaminidase A
61
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
Gaucher disease
62
Gaucher disease involves an accumulation of this
Gluco-cerebrosides
63
Gaucher disease involves a deficiency of this enzyme
Beta-glucosidase
64
Condition that involves "crumpled tissue paper" appearance of the cytoplasm
Gaucher disease
65
Crumpled tissue paper appearance of the cytoplasm can be caused by enlarged, elongated lysosomes filled with this
Glucocerebroside
(In Gaucher disease)
66
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
Sandhoff Disease
67
Sandhoff disease involves an accumulation of this
Gm2 and globosides
68
Sandhoff disease involves a deficiency in this enzyme
Beta-hexosaminidase A and B
69
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
Fabry disease
70
Fabry disease involves an accumulation of this
Globosides
71
Fabry disease involves a deficiency in this enzyme
Alpha-glucosidase
72
Reddish-purple skin rash is seen in this sphingolipidosis
Fabry disease
73
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
Niemann-Pick disease
74
Niemann-Pick disease involves an accumulation of this
Sphingomyelin
75
Niemann-Pick disease involves a deficiency of this enzyme
Sphingomyelinase
76
Foamy-appearing cells in Niemann-Pick disease are due to an accumulation of this
Sphingomyelin
77
Foaming-appearing cells are seen in this sphingolipidosis
Niemann-Pick disease
78
Adult Vitamin D deficiency
Osteomalacia
79
Osteomalacia is an adult deficiency in this
Vitamin D
80
Childhood Vitamin D deficiency
Rickets
81
Condition caused by a defect in microsomal transfer protein (MTP)
Abetalipoproteinemia
82
Abetalipoproteinemia involves a defect in this protein
Microsomal transfer protein (MTP)
83
levels of chylomicrons, VLDL, IDL, and LDL in Abetalipoproteinemia
All decreased/low
84
Abetalipoproteinemia involves a defect in the ability to add lipid to ApoB-48 particle in the synthesis of this
Chylomicrons
85
Fat malabsorption results in a decrease in absorption of these fat soluble vitamins
D, E, A, K
86
Condition where cholesterol cannot be released from the lysosome
Niemann-Pick Type C disease
87
Niemann-Pick Type C disease involves an accumulation of this in lysosomes
Cholesterol
88
Deficiency in ApoC-II or defective lipoprotein lipase
Increased chylomicrons
Increased triacylglycerol
Type I hyperlipoproteinemia
(Familial hyperchylomicronemia)
89
Type I hyperlipoproteinemia involves a deficiency or defect in what?
ApoC-II or lipoprotein lipase
90
Condition where LDL receptor is completely or partially defective
Or ApoB-100 deficiency
High cholesterol
TGs normal or high
High LDL
High VLDL
Type IIa and IIb hyperlipoproteinemia
(Familial hypercholesterolemia)
91
Type IIa and IIb hyperlipoproteinemia are caused by completely or partially defective what?
LDL receptor
92
Condition caused by a defect in ApoE
High cholesterol
High chylomicron remnants
High TGs
High IDL
Type III hyperlipoproteinemia
(Familial dysbetalipoproteinemia)
93
Type III hyperlipoproteinemia is caused by a defect in this
ApoE
94
Condition caused by reduction in the catabolism of VLDLs or increase in their synthesis
High cholesterol (slightly)
High TGs
High VLDL
Type IV hyperlipoproteinemia
(Familial hypertriglyceridemia)
95
Type IV hyperlipoproteinemia is due to a reduction in the catabolism or increased synthesis of this
VLDLs
96
Condition caused by a defect in transporter that supports cholesterol pickup by nascent HDLs
Low HDL
Tangier disease
97
Levels of HDL in Tangier disease
Low
98
Condition involving an accelerated catabolism of ApoA-I and ApoA-II
Low HDL
Hypoalphalipoproteinemia
99
Levels of HDL in Hypoalphalipoproteinemia
Low HDL
100
Pyruvate kinase deficiency causes this type of anemia
Hemolytic anemia
101
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
Glyceraldehyde-3-phosphate
102
Mees lines are indicative of this
Arsenic poisoning
103
Autosomal recessive lack of fructokinase
Benign condition; fructose accumulates in the urine
Essential fructosuria
104
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
Hereditary fructose intolerance
105
When this compound is elevated, it causes cataracts
Seen in galactokinase deficiency
Galactitol
106
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
Classic galactosemia
107
Avidin binds to and inhibits absorption of this
Biotin
(thus inhibits pyruvate carboxylase)
108
Glucocorticoid that induces PEPCK synthesis, stimulating gluconeogenesis
Causes breakdown of muscle protein and hyperglycemia
Dexamethasone
109
Dexamethasone induces this enzyme
PEPCK (induces its synthesis); promotes gluconeogenesis
110
Rotenone (an insecticide) inhibits this
Complex I of ETC
111
Amytal (barbiturates) inhibits this
Complex I of ETC
112
MPTP (synthetic heroin) inhibits this
Complex I of ETC
113
Malonate is a competitive inhibitor of this
Succinate (on complex II of ETC)
114
Antimycin inhibits this
Complex III of ETC
115
Cyanide inhibits this
Complex IV of ETC
116
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
Atractyloside
117
Indirect ETC inhibitor that blocks Fo proton channel
Stops proton movement through ATP synthase and as H+ builds up it inhibits electron transport
Oligomycin
118
Aspirin, pentachlorophenol, and dinitrophenol are uncouplers and have this effect on the rate of oxygen consumption
Increase
(facilitate proton transport across the inner membrane)
