Biochem: nutrition and metabolism Flashcards
(144 cards)
1
Q
vitamins that can have excess/toxicity
A
water: B3, C; fat: A, D
2
Q
bitot spots are caused by vitamin deficiency/excess
A
A deficiency
3
Q
pseudotumor cerebri in this vitamin def/xs
A
A excess
4
Q
hepatic toxicity in this vitamin def/xs
A
A excess
5
Q
beriberi in this vitamin def/xs
A
B1 deficiency
6
Q
manifestations of beriberi
A
dry: polyneuritis, symmetrical muscle wasting
wet: high output cardiac failure (DCM), edema
7
Q
how to dx B1 deficiency
A
increased transketolase activity after b1 administration
8
Q
cheilosis in this vitamin def/xs
A
B2 (riboflavin) deficiency
9
Q
this vitamin def mimics tryptophan def
A
B3/niacin
10
Q
glossitis and pellagra in this vit def/xs
A
B3/niacin deficiency
11
Q
Hartnup disease can cause this vitamin def/xs
A
B3/niacin deficiency
12
Q
facial flushing (PG), hyperglycemia, and hyperuricemia in this vitamin def/xs
A
B3/niacin excess. note: given to lower cholesterol
13
Q
this vitamin is important for co-enzyme A function
A
B5/pantothenic acid
14
Q
INH and OCPs induce this vitamin def/xs
A
B6/pyridoxine deficiency
15
Q
neurologic complications and sideroblastic anemia in this vitamin def/xs
A
B6/pyridoxine deficiency
16
Q
this vitamin is important for carboxylation enzymes
A
B7/biotin
17
Q
def/xs caused by antibiotics or excessive ingestion of raw egg whites
A
biotin deficiency (rare). similar sx to B5 def
18
Q
def/xs caused by drugs such as phenytoin, sulfonamides, and methotrexate
A
B9/folate deficiency
19
Q
calcium oxalate nephrolithiasis in this vitamin def/xs
A
C excess
20
Q
increased risk of iron toxicity (in predisposed individuals) in this vitamin def/xs
A
C excess
21
Q
def/xs can be seen in granulomatous diseases
A
D excess
22
Q
hemolytic anemia, acanthocytosis, and neuro problems in this vitamin def/xs
A
E (tocopherol/tocotrienol) deficiency. neuro sx similar to B12 deficiency, but without megaloblastic anemia, hypersegmented neutrophils or elevated methylmalonic acid
23
Q
neonates are injected at birth with this vitamin
A
K. to prevent hemorrhagic disease
24
Q
deficiency in this can cause decreased adult hair
A
zinc deficiency. also delayed woudn healing, hypogonadism, acrodermatitis enteropathica. and may predispose to alcoholic cirrhosis
25
fomepizole MOA
inhibits alcohol dehydrogenase. antidote for methanol or ethylene glycol
26
disulfiram inhibits
acetylaldehyde dehydrogenase
27
RDS glycolysis
phosphofructokinase-1 (converts F6P to F16BP)
28
RDS gluconeogenesis
fructose-1,6-bisphosphatase
29
RDS TCA cycle
isocitrate dehydrogenase
30
RDS glycogenesis
glycogen synthase
31
RDS glycogenolysis
glycogen phosphorylase
32
RDS HMP shunt
G6PD
33
RDS de novo pyrimidine synthesis
carbamoyl phosphate synthetase II (first step, converts glutamine + CO2 to CP)
34
RDS de novo purine synthesis
PRPP
35
RDS urea cycle
carbamoyl phosphate synthetase I
36
RDS fatty acid synth
acetyl-CoA carboxylase (turns acetyl-CoA into malonyl-CoA)
37
RDS fatty acid oxidation
carnitine acyltransferase I (helps shuttle into/across mitocondrial membrane)
38
RDS ketogenesis
HMG-CoA synthase (converts acetyl-CoA into HMG-CoA)
39
RDS cholesterol synthesis
HMG-CoA reductase (converts HMG-CoA to mevalonate)
40
Hexokinase vs. glucokinase: tissue
glucokinase in liver and beta cells
41
Hexokinase vs. glucokinase: Km and Vmax
glucokinase has a high Km and high Vmax
42
Hexokinase vs. glucokinase: feedback inhibition
hexokinase is inhibited by G6P
43
Hexokinase vs. glucokinase: induced by insuline and associated with MODY
glucokinase
44
FBPase-2 promotes
gluconeogenesis. Turns F26BP (not part of main pathway) into F6P
45
PFK-2 promotes
glycolysis. Turns F6P into F26BP (not part of main pathway), which catalyzes conversion of F6P into F16BP (on the way to glycolysis)
46
F26BP promotes
conversion of F6P into F16BP (on the way to glycolysis)
47
glucagon effect on cAMP
increases
48
insulin effect on cAMP
decreases
49
cofactors required for pyruvate dehydrogenase
B1, B2, B3, B5, lipoic acid
50
name intermediates, in order, of TCA
citrate, isocitrate, aKG, succinyl-CoA, succinate, fumarate, malate, OAA
51
CO2 is generated after these steps of TCA
after iso citrate and after aKG
52
ETC inhibitor(s)
rotenone (I), antimycin (III), CO/CN (IV)
53
ATP synthase inhibitor(s)
oligomycin
54
ETC-ATP uncoupling agent(s)
2,4-dinitrophenol, aspirin, thermogenin
55
which chains (even or odd) can lead to gluconeogenesis
odd chains
56
def. in fructose intolerance
aldolase B (converts F1P into DHAP and glyceraldehyde)
57
def. in classic galactosemia
galactose-1-phosphate uridyl transferase
58
essential glucogenic AAs
methionine, valine, histidine
59
essential ketogenic AAs
lysine, leucine
60
essential AAs for both glucogenesis and ketogenesis
isoleucine, phenylalanine, threonine, tryptophan
61
rifaximin MOA
decreases colonic ammoniagenic bacteria
62
these drugs bind to NH4+ and lead to excretion
benzoate, phenylacetate, phenylbutyrate
63
required co-factor for carbamoyl phosphate synthetase I
n-acetylglutamate
64
PKU def
phenyalanine hydroxylase (or BH4) which converts phe to tyr
65
Maple syrup urine disease def
branched-chain alpha-ketoacid dehydrogenase, which uses thiamine
66
what is ochoronosis
bluish-black sclera, caused by alkaptonuria
67
alkaptonuria deef
homogentisate oxidase, which converts homogentisic acid to maleylaetoacetic acid (tyrosine degradation other than catecholamine synthesis)
68
albinism def
tyrosinase, which converts DOPA to melanin
69
carbidopa MOA
blocks DOPA carboxylase, which converts DOPA to dopamine
70
enzyme that converts dopamine to nore
dopamine beta-hydroxylase
71
function of COMT
degrades nore into normetanephrine
72
cystinuria def
kidney and intestinal transporters for cysteine, ornithin, lysine, arginine
73
how to dx cystinuria
cyanide-nitroprusside test
74
tx cystinuria
alkalinization of urine, chelating agents
75
Von Gierke (dz #, deficiency, sx)
I. G6Pase. hypoglycemia, gout, lactate, triglycerides
76
Pompe (#, def, sx)
II. acid maltase. cardiomyopathy
77
Cori dz (#, def, sx)
III. debranching enzyme. milder form of von Gierke. Normal blood lactate levels and gluconeogensis is intact
78
McArdle dz (#, def, sx)
V. SKM glycogen phosphorylase. muscle cramps, myoglobinuria, arrhythmia from electrolyte abnormalities
79
Fabry dz (def, sx)
the only XR one. alpha-galactosidase A. accumulates ceramide trihexoside. early triad: peripheral neuropathy, angiokeratomas, hypohydrosis. late: progressive renal failure, CV disease
80
Gaucher dz (def, sx)
glucocerebrosidase (beta-glucosidase. can tx w/ recombinant). accumulates glucocerebroside. hepatosplenomegaly, pancytopenia, osteoprosis, aseptic necrosis of femur, bone crises, gaucher cells
81
Niemann-Pick dz (def, sx)
sphingomyelinase deficiency, sphingomyelin accmulates. progressive neurodegeneration, foam cells, cherry-red spot on macula, hepatosplenomegaly
82
Tay-Sachs dz (def, sx)
hexosaminidase A def. GM2 ganglioside accumulates. progressive neurodegen, cherry-red spot, lysosomes with onion skin, developmental delay. NO hepatosplenomegaly (vs. Niemann-Pick)
83
Krabbe dz (def, sx)
galactocerebrosidase, accumulates galactocerebroside and psychosine. peripheral neuropathy, developmental delay, optic atrophy, globoid cells
84
metachromic leukodystrophy (def, sx)
arylsulfatase A. cerebroside sulfate accumulates. central and peripheral demyelination with ataxia, dementia
85
3 pathways leading to ceramide
sphingomyelin
galactocereborisde (from sulfatides)
glucocerebroside (from GM2/3 and ceramide trihexoside)
86
apo E function
remnant uptake. all but LDL
87
apo A-I function
activates LCAT. on HDL and chylomicrons
88
apo C-II function
LPL cofactor. on chylo, VLDL, and HDL
89
B-48 is only found in
intestines. chylo and chylo remnants
90
dyslipidemia I
chylomicrons. LPL or CII deficiency. pancreatitis. no risk for atherosclerosis
91
dyslipidemia IIa
FH (AD). LDL accumulates. absent LDLR. atherosclerosis
92
dyslipidemia IIb
both VLDL and LDL. overproduction
93
dyslipidemia III
IDL and chylomicrons. apo E deficiency
94
dyslipidemia IV
VLDL. overproduction. pancreatitis
95
dyslipidemia V
mixed VLDL and chylomicrons. rare
96
peripheral neuropathy, angiokeratomas, hypohidrosis
| followed by progressive renal disease and CV disease
Fabry disease
97
MC lysosomal storage disease
Gaucher
98
hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises, lipid-laden macrophages
Gaucher
99
progressive neurodegeneration, hepatosplenomegaly, foam cells, cherry red spot on macula
Niemann-Pick
100
progressive neurodegeneration, cherry red spot on macula, developmental delay, onion skin lysosomes
Tay-Sachs
| Note: NO hepatosplenomegaly
101
peripheral neuropathy, developmental delay, optic atrophy, globoid cells
Krabbe disease
102
central and peripheral demyelination with ataxia, demetnia
metachromatic leukodystrophy
103
developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
Hurler syndrome
104
aggressive behavior, mild developmental delay, gargoylism, airway obstruction, hepatosplenomegaly
Hunter syndrome
| the hurler sx are mild, and there is no corneal clouding
105
iduronate sulfatase deficiency
Hunter syndrome
106
alpha-L-iduronidase deficiency
Hurler syndrome
107
alpha-galactosidase A deficiency
Fabry disease
108
arylsulfatase A deficiency
metachromatic leukodystrophy
109
galactocerebrosidase deficiency
Krabbe disease
110
glucocerebrosidase (beta-glucosidase) deficiency
Gaucher. Treat with recombinant glucocerebrosidase
111
sphingomyelinase deficiency
Niemann-Pick disease
112
hexosaminidase A deficiency
Tay-Sachs
113
glucocerebroside accumulates
Gaucher
114
Ceramide trihexoside accumulates
Fabry
115
sphingomyelin accumulates
Niemann-Pick
116
GM2 ganglioside accumulates
Tay-Sachs
117
galactocerebroside accumulates
Krabbe disease. psychosine also accumulates
118
cerebroside sulfate accumulates
metachromatic leukodystrophy
119
heparan sulfate, dermatan sulfate accumulate
happens in both Hunter and Hurler
120
psychosine accumulates
Krabbe. galactocerebroside also accumulates
121
findings in Fabry
early: episodic peripheral neuropathy, angiokeratomas
late: progressive renal failure, cardiovascular disease
122
findings in Krabbe
peripheral neuropathy, developmental delay, optic atrophy, globoid cells
123
findings in Tay-Sachs
progressive neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin
Note: no hepatosplenomegaly (vs. Niemann Pick)
124
findings in metachromatic leukodystrophy
central and peripheral demyelination with ataxia, dementia
125
findings in Hunter syndrome
mild Hurler (except corneal clouding) + aggressive behavior
126
findings in Niemann-Pick
progressive neurodegeneration, hepatoslenomegaly, foam cells, cherry red spot on macula
127
findings in Gaucher disease
hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises, Gaucher cells
128
findings in Hurler syndrome
developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
129
enzyme deficiency Hurler
alpha-L-iduronidase
130
enzyme def Hunter
iduronate sulfatase
131
enzyme def Gaucher
glucocerebrosidase (beta-glucosidase)
132
enzyme def Niemann-Pick
sphingomyelinase
133
enzyme def Tay-Sachs
hexosaminidase A
134
enzyme def Fabry
alpha-galactosidase A
135
enzyme def Krabbe
galactocerebrosidase
136
enzyme def metachromatic leukodystrophy
arylsulfatase A
137
Hunter accumulation
heparan sulfate, dermatan sulfate
138
metachromatic leukodystrophy accumulation
cerebroside sulfate
139
Krabbe accumulation
galactocerebrosidase, psychosine
140
Tay-Sachs accumulation
GM2 ganglioside
141
Hurler accumulation
heparan sulfate, dermatan sulfate
142
Gaucher accumulation
glucocerebrosidase
143
Niemann-Pick accumulation
sphingomyelin
144
Fabry accumulation
ceramide trihexoside
