Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Step One > Biochem Random > Flashcards

Biochem Random Flashcards

1
Q

histone amino acids

A

lysine and arginine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

linker histone

A

H1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

heterochromatin

A

highly condensed
increase methylation
decrease acetylation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

methylation

A

cystine and adenine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

methylation at CpG islands

A

represses transcription

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

histone modification

A

methylation mute

acetylation active

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

linkage phosphate in nucleotide

A

3-5’ phosphodiester bond

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

methyl in base

A

thymine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

deamination of cytosine

A

makes uracil

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

deamination of adenine

A

makes guanine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

methylation of uracil

A

makes thymine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

amino acids for purine synthesis

A

glycine
aspartate
glutamine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

inhibits dihydroorotate dehydrogenase

A

leflunomide

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

inhibits ribonucleotide reductase

A

hydroxyurea

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

adenosine deaminase deficiency

A

required for degradation of adenosine and deoxyadenosine

increase dATP toxicity to lymphocytes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

treatment Lesch-Nyhan

A

allopurinol or febuxostat

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Wobble exceptions

A

methionine and tryptophan

only encoded by 1 codon

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

exception of universal genetic cod

A

mitochondria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

AT rich sequences

A

found in promoters and origins of replication

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

-poside inhibits

A

topo II

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

-tecan inhibits

A

topo I

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

FQN inhibits

A

topo II and topo IV

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

degrades RNA primer

replaces with DNA

A

DNA polymerase I

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

transition mutation

A

purine to purine or pyrimidine to pyrimidine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

transversion mutation

A

purine to pyrimidine or pyrimidine to purine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

early stop

A

nonsense

UAG, UAA, UGA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

examples of frameshift mutation

A

Duchenne and Tay Sachs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

examples of mutation in splice site

A

cancers, dementia, epilepsy, beta thalassemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

low glucose

A

increase AC leading to activation of CAP and increased transcription

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

high lactose

A

unbinds repressor leading to increase transcription

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

defective nucleotide excision repair

A

xeroderma pigmentosum

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

steps base excision repair

A

glycosylase removes base and creates AP site
endonuclease cleaves 5’
lyase cleaves 3’ end
polymerase followed by ligase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

defective mismatch repair

A

Lynch syndrome

occurs in G2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

defective nonhomologous end joining

A

ataxia telangiectasia, BRCA1 mutation, Fanconi anemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

start codon eukaryotes vs prokaryotes

A

methionine to n-formylmethionine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

promoter region

A

AT rich upstream with TATA and CAAT boxes

mutation leads to decrease in transcription

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

signs of intron

A

start with GT

end with AG

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

most numerous RNA

A

rRNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

alpha amanitin

A

inhibits RNAP II

causes hepatotoxicity

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

initial transcript

A

heterogeneous nuclear RNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

polyadenlation signal

A

AAUAAA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

quality control mRNA

A

cytoplasmic procesing bodies (P bodies)

contain exonucleases, decapping enzymes and microRNAs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

antibodies to snRNPs

A

SLE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

anti-U1 RNP

A

mixed connective tissue

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

microRNA

A

small, conserved, noncoding RNA molecules

target 3’ UTR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

T arm tRNA

A

ribothymidine, pseudouridine, cytidine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

D arm tRNA

A

dihydrouridine residues

detects tRNA by aminoacyl-tRNA synthetase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

initiation protein synthesis

A

GTP hydrolysis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

tumor suppressors

A

p53 induces p21
inhibits CDKs
hypophosphorylation of Rb inhibits G1 to S progression

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

permanent cells

A

neurons, skeletal and cardiac muscle, RBCs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

stable

A

hepatocytes and lymphocytes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

RER

A

secretory proteins and N-liknked oligosaccharide addition

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

RER in neurons

A

Nissle bodies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

free ribosomes

A

cytosolic and organellar proteins

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

cells rich in RER

A

mucus goblet cells and plasma cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

smooth ER

A

steroid synthesis and detox of drugs and poisons

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

n-oligosaccharides

A

asparagine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

o-oligosaccharides

A

serine and threonine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

defect in n-acetylglucosaminyl-1-phosphotransferase

A

I cell disease

cells secreted extracellularly rather than delivered to lysosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

absent signal recognition particle

A

protein accumulates in cytosol

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

cop II vs cop I

A

two forward

one back

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
62
Q

peroxisome

A

very long chain fatty acids, branched fatty acids, amino acids, and ethanol catabolism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
63
Q

hypotonia, seizures, hepatomegaly

A

Zellweger syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
64
Q

scaly skin, ataxia, cataracts, shortening of 4th toe, epiphyseal dysplasia

A

Refsum disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
65
Q

defects proteasome

A

Parkinson disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
66
Q

actin, microvilli

A

microfilaments

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
67
Q

vimentin, desmin, cytokeratin, lamins, glial fibrillary acid proteins, neurofilaments

A

intermediate filaments

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
68
Q

cilia, flagella, spindle, centrioles

A

microtubules

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
69
Q

desmin

A

muscle

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
70
Q

GFAP

A

neuroglia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
71
Q

dynein vs kinesin

A

dynein retrograde

kinesin anterograde

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
72
Q

9 doublet and 2 singlet arrangement

A

cliaa

of MT

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
73
Q

basal body

A

9 MT triplets with no central MT

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
74
Q

female with Kartagener

A

increase risk of ectopic pregnancy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
75
Q

sodium potassium

A

3 Na out

2 K in

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
76
Q

oubain

A

inhibits bining to K site

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
77
Q

type I collagen

A

bone, skin, tendon, dentin, fascia, cornea, late wound repair

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
78
Q

type II collagen

A

cartilage, vitreous body, nucleus pulposus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
79
Q

type III

A

reticulin-skin, blood vessels, uterus, fetal tissue, granulation tissue
seen in Ehlers-Danlos

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
80
Q

type IV

A

basement membrane, basal lamina, lens

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
81
Q

hydroxylation collagen

A

proline and lysine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
82
Q

problems forming triple helix collagen

A

osteogenesis imperfecta

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
83
Q

problems with cleavage of disulfide rich terminal regions procollagen

A

Ehlers-Danlos

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
84
Q

problems with cross-linking collagen

A

Ehlers-Danlos and Menkes disease

covalent lysine-hydroxylysine cross linking by copper containing lysyl oxidase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
85
Q

genetics osteogenesis imperfecta

A

COL1A1 and COL1A2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
86
Q

translucent connective tissue over choroidal veins

A

blue sclera in OI

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
87
Q

aneurysms Ehlers Danlos

A

berry and aortic aneuysms

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
88
Q

classical Ehlers-Danlos

A

mutation in type V collagen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
89
Q

genetics Menkes disease

A

X linked recessive impaired copper absorption and transport
ATP7A
brittle, kinky hair, growth retardation and hypotonia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
90
Q

composition elastin

A

rich in nonhydroxylated proline, glycine, and lysine residues

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
91
Q

crosslinking elastin

A

extracellular

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
92
Q

wrinkles of aging

A

decrease collagen and elastin production

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
93
Q

genetics Marfan syndrome

A

FBN1 on ch 15

AD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
94
Q

lens in marfan

A

upward and temporally displaced

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
95
Q

southwestern blot

A

DNA binding proteins
like transcription factors
using labeled oligonucleotide probes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
96
Q

microarrays

A

detect single nucleotide polymorphisms and copy number variations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
97
Q

less specific than Western blot

A

ELISA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
98
Q

phase karyotyping

A

metaphase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
99
Q

samples for karyotyping

A

blood, bone marrow, amniotic fluid, or placental tissue

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
100
Q

steps cloning

A

isolate
expose to RT to produce cDNA
insert cDNA into plasmids with ABX resistance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
101
Q

cre-lox system

A

manipulate genes at specific developmental points

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
102
Q

RNAi

A

dsRNA complementary to mRNA sequence

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
103
Q

pleiotropy

A

multiple phenotypic effects

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
104
Q

dominant negative mutation

A

heterozygote produces nonfunctional altered protein that also prevents normal product

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
105
Q

somatic mosaicism

A

mitotic errors after fertilization

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
106
Q

gonadal mosaicism

A

only in egg or sperm

suspect if parents do not have disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
107
Q

mosaicism survivable

A

McCune Albright

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
108
Q

different muations at same locus

A

beta thalassemia

allelic heterogeneity

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
109
Q

mutation at different loci produce similar phenotype

A

albinism

locus heterogeneity

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
110
Q

heteroplasmy

A

mitochondrial-normal and mutated leading to variable expression

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
111
Q

heterodisomy

A

heterozygous indicates meiosis I error

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
112
Q

isodisomy

A

meiosis II error or postzygotic chromosomal duplication

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
113
Q

individual with recessive when only one parent is carrier

A

uniparental disomy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
114
Q

HW assumptions

A

no mutation
natural selection not occurring
random mating
no net migration

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
115
Q

Prader Willi

A

maternal imprint

paternal mutated

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
116
Q

Angelman

A

paternal imprint

maternal mutated

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
117
Q

genetics hypophosphatemic rickets

A

X linked dominant

same genetics as fragile X and Alport syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
118
Q

genetics CF

A

AR on ch7

Phe508 deletion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
119
Q

pathophysiology CF

A

ATP-gated Cl channel retained in RER leading to increase intracellular Cl and increase Na reabsorption

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
120
Q

increase immunoreactive trypsinogen

A

newborn screening CF

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
121
Q

infection CF infancy vs adolescence

A

Staph aureus early

pseudomonas adolescence

122
Q

infertility CF

A

absence of vas deferns

123
Q

slows progression CF

124
Q

lyonization

A

female carriers variably affected depending on pattern of X inactivation

125
Q

start weakness Duchenne

126
Q

role dystrophin

A

anchor muscle fibers

connects intracellular cytoskeleton to transmembrane proteins alpha and beta dystroglycan

127
Q

labs dystrophin

A

increase CK and aldolase

128
Q

genetics myotonic type 1 dystrophy

A

CTG repeat in DMPK

AD

129
Q

myotonia, muscle wasting, cataracts, testicular atrophy, frontal balding, arrhythmia

A

myotonic type 1 dystrophy

130
Q

genetics fragile X

A

CGG on FMR1
X linked
leads to hypermethylation

131
Q

macroorchidism, long face with large jaw, large everted ears, autism, mitral valve prolapse

A

fragile x syndrome

132
Q

CAG repeat

A

huntington

133
Q

GAA repeat

A

Friedreich ataxia

134
Q

most common unbalanced Robertsonian translocation Downs

135
Q

labs first trimester downs

A

increase nuchal transleucency and hypoplastic nasal bone
decrease PAPP-A
increase free beta hCG

136
Q

second trimester labs

A

decrease alpha FP, increase beta hCG, decrease estriol, increase inhibin A

137
Q

prominent occiput, rocker-bottom feet, intellecutal disability, non-disjunction, clenched fists, low set ears, small jaw, congenital heart disease

A

Edwards 18

138
Q

labs edwards

A

decrease everything

139
Q

severe intellectual disability, rocker bottom feet, microphthalmia, microcephaly, cleft lip/palate, holoprosencephaly, polydactyly, cutis aplasia, congenital heart sidease

A

patau

decrease everything in labs

140
Q

ch 3

141
Q

ch 4

A

ADPKD (2), achondroplasia, Huntington

142
Q

ch 5

A

cri-du-chat syndrome, FAP

143
Q

ch 6

A

hemochromatosis

144
Q

ch 7

A

Williams syndrome, CF

145
Q

ch 9

A

Friederich ataxia

146
Q

ch 11

A

Wilms tumor, beta globulin defects (SCD, beta thal, men1)

147
Q

ch 13

A

Patau, Wilson, Rb, BRCA2

148
Q

ch15

A

Prader-Willi, Angelman, Marfan

149
Q

ch16

A

ADPKD1, alpha globin defects

150
Q

ch17

A

NF1, BRCA1, p53

151
Q

ch18

152
Q

ch21

153
Q

ch22

A

NF2, DiGeorge

154
Q

Robertsonian translocation

A

long arms of 2 acrocentric chromosomes fuse at centromere and 2 short arms are lose
unblaanced-miscarriage, stillbirth, and chromosomal imbalance

155
Q

cardiac cri-du-chat

156
Q

elfin facies, hypercalcemia, extreme friendliness

A

Williams syndrome

157
Q

night blindness, dry skin, corneal degeneration, Bitot spots on conjunctiva

A

vitamin A def

158
Q

acute vitamin A tox

A

N/V, vertigo, blurred vision

159
Q

pseudotumor cerebri tox

160
Q

teratogenic vitamin A

A

cleft palate, cardiac abnormalities

161
Q

thiamine (B1)

A

pyruvate dehydrogenase
alpha ketoglutarate dehydrogenase
transketolase
branched-chain ketoacid dehydrogenase

162
Q

diagnosis B1 def

A

increase RBC transketolase after B1 administration

163
Q

B2 (riboflavin)

A

succinate dehydrogenase

164
Q

B2 def

A

corneal vascularization and cheilosis

165
Q

derivation niacin

A

from tryptophan

synthesis requires B2 and B6

166
Q

severe b3 def

A

in Harnup disease, malignant carcinoid syndrome and isoniazid

167
Q

pellagra symptoms

A

diarrhea, dementia, dermatitis

168
Q

treatment hartnup

A

high-protein diet and nicotinic acid

169
Q

b5 (pantothenic acid) def

A

dermatitis, enteritis, alopecia, adrenal insufficiency

170
Q

function B6

A

transamination, decarboxylation, glycogen phosphorylation

171
Q

b6 synthesis for

A

cystathonine, heme, niacine, histamine, NT (serotonin, epi, NE, dopa, GABA)

172
Q

b6 def

A

convulsions, peripheral neuropathy, sideroblastic anemia

173
Q

inhibition b7

A

avidin (from eggs)

used in carboxylase reactions

174
Q

absorption folate

175
Q

labs folate def

A

increase homocysteine and normal methylmalonic acid

176
Q

causes of folate def drugs

A

phenytoin, sulfonamides, methotrexate

177
Q

cofactor methionine synthase and methylmalongyl-CoA mutase

178
Q

labs b12 def

A

increase homocysteine and methylmalonic acid

179
Q

cofactor dopamine to NE

A

dopamine beta hydroxylase requires vitamin C

180
Q

excess vitamin C

A

risk of iron toxicity

calcium oxalate nephrolithiasis

181
Q

ergocalciferol

A

from plants D2

182
Q

excess vitamin D in granulomatous disease

A

increase activation vitamin D by epithelioid macrophages

183
Q

high dose vitamin E

A

alter vitamin K

enhanced effects of warfarin

184
Q

vitamin E def

A

hemolytic anemia, acanthocytosis, muscle weakness, posterior column and spinocerebellar tract demyelination
looks like b12 def but without megaloblastic anemia

185
Q

def predispose alcholic cirrhosis

186
Q

kwashiorkor

A

protein malnutrition due to decrease plasma oncotic pressure, liver malfunction

187
Q

marasmus

A

deficient in caloriesbut no nutrients entireley absent

muscle wasting

188
Q

fomepizale

A

inhibits alcohol dehydrogenase

antidote for methanol or ethylene glycol

189
Q

disulfuram

A

inhibits acetaldehyde dehydrogenase

190
Q

kinetics alcohol dehydrogenase

A

zero order kinetics

191
Q

ethanol metabolism

A

increase NADH/NAD ratio
leads to lactic acidosis, fasting hypoglycemia, hepatosteatosis
favors acetyl-CoA for ketogenesis

192
Q

occurs in both mitochondria and cytoplasm

A

heme synthesis
urea cycle
gluconeogenesis

193
Q

occurs in cytoplasm

A

glycolysis, HMP shunt, steroids, proteins, FA, cholesterol, and nucleotides

194
Q

carboxylase

A

requires biotin

195
Q

regulators of PFK1

A

+ AMP, F26BP

-ATP citrate

196
Q

regulators F16BP

A

+ citrate

-AMP, F26BP

197
Q

regulators isocitrate dehydrogenase

A

+ ADP

-ATP NADH

198
Q

regulators glycogen synthase

A

+G6P, insulin, cortisol

-epi, glucagon

199
Q

regulators G6PD

A

+ NADP

- NADPH

200
Q

regulators CPS II

A

+ ATP, PRPP

-UTP

201
Q

regulators CPS I

A

n-acetylglutamate +

202
Q

acetyl CoA carboxylase

A

+ insulin +citrate

-glucagon, palmitoyl CoA

203
Q

carnitine acyltransferase I

A

-malonyl CoA

204
Q

HMG-CoA reductase

A

+insulin, thyroxine

-glucaagon, cholesterol

205
Q

glycerol3phosphate

A

30 net ATP in muscle

206
Q

arsenic glycolysis

A

produce zero net ATP

207
Q

uses NADPH

A

anabolic processes
respiratory burst
cytochrome p450
glutathione reductase

208
Q

glucokinase

A

in liver and beta cells of pancreas
induced by insulin
has higher Km (lower affinity)
not inhibited by G6P

209
Q

fasting F26BP

A

increase PKA due to glucagon

increase FBPase 2 more gluconeogenesis

210
Q

pyruvate dehydrogenase complex

A 
thiamine pyrophosphate B1
lipoic acid
CoA B5
FAD b2
NAD b3
211
Q

arsenic

A

inhibits lipoic acid

leads to vomiting, rice-water stools, garlic breath, QT prolongation

212
Q

findings pyruvate dehydrogenase complex def

A

neuro defects, lactic acidosis, increase alanine

213
Q

treatment pyruvate dehydrogenase def

A

intake ketogenic nutrients

lysine and leucine

214
Q

NADH enter mitohondria for ETC

A

malate-aspartate or glycerol 3 phosphate shuttle

FADH straight tocomplex II

215
Q

rotenone

A

inhibits complex I

216
Q

antimycin A

A

inhibits complex 3

217
Q

CO/CN

A

inhibits complex 4

218
Q

oligomycin

A

inhibits ATP synthase

219
Q

uncoupling agents

A

2,4 dinitrophenol, aspirin, thermogenin in brown fat

220
Q

even vs odd FA

A

odd makes 1 propionyl CoA

even cannot produce glucose due to only yielding acetyl CoA equivalents

221
Q

sites HMP shunt

A

lactatin mammary glands, liver, adrenal cortex, RBCs

222
Q

Heinz bodies

A

denatured hemoglobin within RBCs due to oxidative stress

223
Q

defect fructokinase

A

essential fructosuria

fructose in blood and urine

224
Q

deficiency aldolase B

A

fructose intolerance
decrease phosphate which inhibits glycogenolysis and gluconeogenesis
reducing sugar in urine
decrease fructose and glucose as treatment

225
Q

galactokinase deficiency

A

cataracts

failure to track objects and develop social smile

226
Q

absence glalactose1phosphate uridyltransferase

A

accumulation galactitol in lens of eye
failure to thrive
exclude galactose and lactose from diet as treatment

227
Q

sorbitol to fructose

A

sorbitol dehydrogenase

228
Q

glucose to sorbitol

A

aldose reductase

229
Q

cells with only aldose reductase

A

retina, kidneys, Schwann cells

230
Q

lactase

A

make glucose and galactose

231
Q

stool lactase deficiency

A

decrease pH and breath increase hydrogen content

232
Q

AA in proteins

A

L amino acids

233
Q

essential AA

A

methioneine, histidien, leucine, lysine, isoleucine, phenylalanine, threonine, tryptophan

234
Q

AA required during periods of growth

A

Arg and His

235
Q

results hyperammonemia

A

depletes alpha ketoglutarate leading to inhibition TCA

236
Q

benzoate, phenylacetate and phenylbutyrate MOA in hyperammonemia

A

react with glycine or glutamine

products renally excreted

237
Q

increase orotic acid
decrease BUN
hyperammonemia
no megaloblastic anemia

A

ornithine transcarbamylase deficiency

238
Q

products phenylalanine

A 
tyrosine (thyroxine)
dopa (melanin)
dopamine
NE
epi
239
Q

products tryptophan

A

niacin

serotonin (melatonin)

240
Q

products glycine

A

prophyrin

heme

241
Q

products arginine

A

creatine
urea
NO

242
Q

defect homogentisate oxidase

A

alkaptonuria

243
Q

defect phenylalanine hydroxylase

244
Q

defect tyrosinase

245
Q

PKU

A

decrease phenylalanine hydroxylase or TH4 cofactors

246
Q

phenyl ketones

A

phenylacetate, phenyllactate, phenylpyruvate

247
Q

treatment PKU

A

decrease phenylalanine and increase tyrosine

248
Q

maple syrup disease

A

blocked degradation of branched AA (isoleucine, leucine, valine) due to decrease branched chain alpha ketoacid dehydrogenase

249
Q

treatment maple syrup disease

A

restrictio of isoleucine, leucine, valine in diet

thiamine supplementation

250
Q

deficieny of homogentisate oxidase

A

alkaptonuria

homogentisic acid accumulates

251
Q

cystathionine synthase def

A

decrease methionine, increase cysteine and B6, B12 and folate in diet

252
Q

methionine synthatse def

A

increase methionine in diet

253
Q

findings homoxystinuria

A 
increase homocysteine in urine
osteoporosis
marfanoid habitus
ocular changes (down and in)
cardio (stroke and MI)
kyphosis and intellectual disability
254
Q

cystinuria

A

defect in COLA reabsorption

leads to stones (urinary alk as treatment)

255
Q

diagnostic test cystinuria

A

cyanide-nitroprusside test

256
Q

limit dextrin

A

1-4 residues remaining on a branch after glycogen phosphorylase has shortened it

257
Q

incrased glycogen in liver, increased blood lactate, increase triglycerides, increase uric acid and hepatomegaly

A

Von Gierke

defect in G6P

258
Q

treatment von Gierke

A

frequent oral glucose or cornstarch

avoid fructose and galactose

259
Q

cardiomegaly, hypotonia, exercise intolerance

A

Pompe

lysosomal alpha 1-4 glucosidase

260
Q

limid dextrin like in cytosol

normal lactate levels

A

debranching enzyme alpha 1,6

Cori disease

261
Q

increase glycogen in muscle

cramps and myoglobinuria and arrhythmia

A

myophosphorylase

McArdle disease

262
Q

second wind phenomenon

A

due to increase muscular blood flow

found in McArdle disease

263
Q

cherry red spot without hepatosplenomegaly

A

Tay Sach
deficient hexosaminidase A
GM2 ganglioside builds up

264
Q

Fabry disease

A

episodic peripheral neuropathy, angiokeratomas, hyphohidrosis
later-renal failure, cardiovascualr disease

265
Q

defect Fabry

A

alpha galactosidase A

ceramide trihexoside builds up

266
Q

defect metachromatic leukodystrophy

A

arylsulfatase A

cerebroside sulfate builds up

267
Q

peripheral neuropathy, developmetnal delay, optic atrophy, globoid cells

A

Krabbe due to defect in galactocerebrosidase

buildup of galactocerebroside and psychosine

268
Q

pancytopenia, osteoporosis, avascular necrosis, bone crisis and lipid laden macrophages

A

Gauche due to defect in glucocerebrosidase

269
Q

hepatosplenomegaly, foam cells, cherry red macula

A

NPC from defect in sphingomyelinase

270
Q

corneal clouding and hepatosplenomegaly

A

Hurler du to alpha L iduronidase def

271
Q

hunter

A

no corneal clouding and has aggressive behavior

iduronate sulfatase def

272
Q

increased in Ashkenazi Jews

A

NPC, Tay Sachs, Gaucher

273
Q

X linke lysosomal

A

hunter and Fabry

274
Q

required for FA synthesis

A

citrate to transport from mitochondria to cytosol

in liver, lactating mammary glands and adipose

275
Q

required for FA degradation

276
Q

systemic primary carnitine def

A

weakness, hypotonia, hypoketotic hypoglycemia

defect in transport of LCFAs

277
Q

accumulation fatty acyl carnitines in blood

A

medium chain acyl CoA dehydrogenase def

avoid fasting

278
Q

depleted oxaloacetate

A

in starvation and DKA

leads to buildup of acetyl CoA which shunts glucose and FFA toward ketones

279
Q

urine test ketones

A

acetoacetate

280
Q

source of energy for brain after 3 days of starvation

281
Q

pancreatic lipase

A

degrade dietary triglycerides

282
Q

lipoprotein lipase

A

degrades TG in chylomicrons and VLDL

found on vascular endothelial surface

283
Q

hepatic TG lipase

A

degrades TG remaining in IDL

284
Q

LCAT

A

esterification of 2/3 plasma cholesterol

285
Q

cholesterol ester transfer protein

A

mediates transfer of cholesterol esters to other lipoprotein particles

286
Q

activates LCAT

287
Q

lipoprotein lipase cofactor that catalyzes cleavage

288
Q

mediates chylomicron secretion into lymphatics

289
Q

binds LDL R

290
Q

alcohol increase synthesis

291
Q

abetalipoproteinemia

A 
absent chylomicrons, VLDL, LDL
def apoB
292
Q

findings abetalipoproteinemia

A

retinitis pigmentosa, spinocerebellar degeneration due to bitamin E deficiency, ataxia, acanthocytosis

293
Q

treatment abeta

A

restrict long chain FA

large dose vitamin E

294
Q

hyperchylomicronemia

A

defect in CII or lipoprotein lipase

295
Q

findings hyperchylomicronemia

A

pancratitis, hepatosplenomegaly, xanthomas

creamy layer in supernatant

296
Q

familial hypercholestrolemia

A

defective LDL receptors

297
Q

findings familial hypercholestrolemia

A

accelerated atehrosclerosis, tendon xanthomas and corneal arcus

298
Q

dysbetalipoproteinemia

A

defective ApoE

299
Q

findings dysbetalipoproteinemia

A

preamture atherosclerosis

xanthoma striatum palmare

300
Q

hypertriglyceridemia

A

overproduction of VLDL

301
Q

findings hypertriglyceridemia

A

hyhpertriglyceridemia

can cause pancreatitis

Step One (19 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions