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Flashcards in Biochem Deck (371):
1

Error in Meiosis I vs Meiosis II--what will RFLP fragments look like in a child with down's syndrome?

Meiosis I: Will have three different chromosomes in the child
Meiosis II: will have duplicates of one chromosome and then one more chromosome

2

Symptoms of fragile X

Macroorchidism
Dysmorphic face
Cognitive impariment
Aggressiveness

3

What is the defect in fragile X? And which gene does it appear on?

Trinucleotide repeat CGG
--Occurs on FMR-1 gene on the X chromosome

4

Short broad finers and transverse palmar creases

Down's syndrome

5

Precursor of tyrosine

phenylalanine

6

Precursor of catecholamines

tyrosine

7

precursor or urea and nitric oxide

arginine

8

Precursor of niacin

tryptophan

9

Pellagra features

dermatitis, diarrhea, dementia

10

Pellagra is a deficiency in

niacin

11

asymp pt with high fructosuria

defective fructokinase

12

How does pt with essential fructosuria metabolize fructose?

hexokinase converts it to fructose 6 phosphate when can then be converted to pyruvate through a number of steps

13

hexokinase

converts glucose-->G6P
converts fructose-->F6P (pathway not significant in normal individuals)

14

aldose reductase

converts glucose to sorbitol

15

PFK 1

Converts F6P to F1,6BP

16

FBP phosphatase-1

Converts F1,6BP to F6P

17

fructokinase

Fructose-->Fructose1P

18

Aldolase B

Fructose1P-->DHAP and glyceraldehyde

19

Triokinase

Glyceraldehyde-->G3P

G3P can then be used to generate pyruvate

20

Aldolase A (and B)

Combines G3P and DHAP to make F1,6BP

21

Carbon tetrachloride

Damages through free radical CCl3
--degrades lipis and produces hydrogen peroxide

22

how does huntington's dz cause effects?

CAG repeats which causes hypermethylation of histones

23

Tx: lead poisoning

dimercaprol/EDTA

24

Rb gene regulates:

TUMOR suppressor that regulates G1-S transition

25

Rb tumor?

retinoblastoma
osteosarcoma
breast/lung/colon

26

Ras pathway

MAP kinase

27

Ras tumor

follicular thyroid cancer

28

Bcl2

follicular lymphoma

29

Gm2 ganglioside accumulation

Tay Sachs

30

heparan sulfate and dermatan sulfate accumulation

Deficiency in alpha-L iduronidase

31

Deficiency in alpha L iduronidase

Hurler syndrome

32

Glucocerebroside accumulation

Gaucher disease

33

Deficiency of glucose 6 phosphatase

Von Gierke

34

Deficiency of lysosomal alpha 1,4 glucosidase

Pompe disease

35

Accumulation of ceramide trihexoside

alpha galactosidase A deficiency
Fabry disease

36

angiokeratomas, acroparesthesia, hypohidrosis and renal failure

Fabry disease

37

Deficiency of sphingomyelinase

Niemann pick

38

Presentation of Niemann pick

Hepatosplenomegaly
hypotonia
cherry red macular spot

39

Foamy histiocytes

foamy histiocytes

40

Inheritance of niemann pick

autosomal recessive. Die by age 3

41

microganthia, low set ears, rocker bottom feet. Over-riding fourth and fifth fingers

Edwards syndrome, trisomy 18. Usually fetal death

42

cleft lip and palate
polydactyly
microcephaly
rocker bottom feet
umbilical hernia

Patau syndrome
Trisomy 13. Fetal death

43

Which vitamin is used to make NAD/NADH?

niacin

44

Four signs of niacin deficiency

dermatitis
dementia
diarrhea
death

45

Which vitamin is essential for a transamination reaction?

B6 (pyradoxine)

Transaminases are necessary for synethesizing amino acids

46

Thiamine is used in which enzymes

transketolase, alpha-ketoglutarate dehydrogenase, and pyruvate dehydrogenase

47

Riboflavin is used for:

FMN and FAD dehydrogenase rxns

48

Biotin is used for:

Carboxylases
1. pyruvate carboxylase
2. acetyl CoA carboxylase
3. Propionyl CoA carboxylase
4. 3-methylcrotonyl-CoA-carboxylase

49

Pleiotropy

One gene has many effects

50

Methotrexate inhibits

DHFR reductase. Results in a build up of DHF.

Blocks BOTH folid acid-->DHF AND DHF-->THF

51

Folinic acid is also known as

leucovorin. A form of THF that can bypass DHFR in pts getting methotrexate

52

5 FU

Inhibits thymidylate synthase which converts N5,N10 methylene THF back to DHF

53

Pantothenic acid

Makes coenzyme A. Necessary for AcetylCoA in first step of TCA+oxaloacetate-->citrate

Also synthesis of vitamin AD, cholesterol, steroids, lots of stuff

54

Sx of pantothenic acid deficiency

burning feet and GI distress

55

DiGeorge=deletion on chromosome...

22

56

Battery factories at risk for poisoning of:

lead. Also mining, chemical processing, radiator repair, recycling

57

Sx of lead poisoning

GI distress
lead line on gum
peripheral neuropathy (wrist/ankle drop)

58

Single palmar crease

Down's syndrome

59

Resistance to chemotherapeutic agents (broad range) comes from

MDR1 gene for P-glycoprotein, a ATP dependent efflux pump

60

What does southwestern blot measure?

DNA-bound protein

61

You need lipoic acid for...

Pyruvate dehydrogenase (lactic acidosis)
alphaketoglutarate dehydrogenase
branched-chain ketoacid DH (maple syrup urine disease)

62

PDH co-enzymes

thiamine
lipoic acid
CoA, FAD, NAD_+
-->if absent, will build up lactate

63

Reye's syndrome

giving aspirin to children causes:
1. Hepatic dysfunction. Microvesicular steatosis with high ALT, AST, ammonia, and bili
2. Encephalopathy of Reye's. Hyperammonemia causes cerebral edema and coma

64

Osler-Weber-Rendu syndrome

telangiectasis in skin and mucosal membranes. Epistaxis, GI bleeding, hematuria result

65

Inheritance of osler weber rendu

Autosomal dominant

66

Which drugs inhibit DHFR?

Trimethoprim, methotrexate, and pyrimethamine

67

Elongation factorsq

facilitate tRNA binding and translocation in protein synthesis

68

How do you clinch the dx of riboflavin deficiency?

glutathione reducase assy
urinary riboflavin excretion

69

action of riboflavin

Used to synthesize FMN and FAD, components of Complex I and II.
--Also, an electron carrier in TCA cycle
--Also a cofactor for succcinate dehydrogenase

70

Explain the process of base excision repair

1. glycosylase cleaves out wrong base pair match
2. endonuclease cleaves 5' end
3. lyase cleaves 3' sugar phosphate backbone
4. DNA polymerase and ligase fill gaps

71

Cystic fibrosis causes what protein level changes?

defective post translational folding and glycosylation. Thus CFTR is degraded before it reaches the surface

72

leucovorin

N5-formyl THF does NOT need reduction by DHFR. Bypasses methotrexate block.

73

How does leucovorin interact with 5-FU

potentiates effect. 5-FU works better in the presence of folate in order to complex with thymidylate synthetase.

74

Trisomy 13 is caused by:

defect during maternal meiosis I

75

Nondisjunction in meiosis I causes

An extra chromosome, with an extra allele

76

Nondisjunction in meiosis II causes

An extrachromosome, with an extra IDENTICAL chromosome

77

47,xxx

clinically silent. maybe less IQ

78

47 xyy

phenotype=normal
tall, severe acne, some motor/language delays

79

long term complication of Edwards syndrome

meckel's and malrotation

80

long term complication of patau

they usually die!
-holoprosencephaly, NTD
-PDA< ASD< VSD
-PCKD
-pyloric stnosis, omphalocele

81

HOCM caused by

cardiac sarcomere protein defect in the beta-myosin gene

82

HOCM inheritance

autosomal dominant

83

Causes of genetic dilated cardiomyopathy

AD dystrophin/mitochondrial enzyme mutations

84

Gallstones caused by

high cholesterol
low bile acids and low phosphatidylcholine

85

During times o plenty, what is the rate limiting step of fatty acid synthesis?

Acyl-CoA carboxylase

86

Glucose 6 phosphatase

Produces free glucose form glucose 6 phosphate

87

which enzyme catalyzes the first step in the beta oxidation pathway?

acyl CoA dehydrogenase

88

melting temperature of DNA depends on

GC content (3 hydrogen bonds)

89

hydroxyurea inhibits

ribonucleotide reductase
--UDP to dUDP

90

Ornithine transcarbamoylase deficiency leads to an accumulation of

carbamoyl phosphate-->orotic acid

91

6 mercaptopurine

Blocks purine synthesis
PRPP-->IMG

92

5 FU

inhibits thymidylate synthase
--lack of dTMP

93

methotrexate

blocks DHFR
--Converts DHF to THF needed for thymidylate synthase

94

trimethoprim

inhibits bacterial DHFR

95

Orotic aciduria

Inability to convert orotic acid to UMP
--Defect in UMP synthase

96

inheritance of orotic aciduria

autosomal recessive

97

Increase in orotic acid in urine, megaloblastic anemia that does NOT improve with B12, failure to thrive, No hyperammonia

orotic aciduria

98

Treatment of orotic aciduria

oral uridine administration

99

Aldolase B

Converts Fructose 1 P to DHAP and glyceraldehyde

100

which codons are NOT degenerate?

methionine and tryptophan

101

xanthine oxidase

Converts hypoxanthine-->xanthine
then
xanthine-->uric acid

102

adenosine deaminase converts

adenosine to inosine-->hypoxanthine
--cannot break down adenine
--excess adenine
--feedback inhibition of ribonucleotide reductase

103

inheritance of adenosine deaminase

autosomal recessive

104

Lesch Nyhan syndrome

Loss of HGPRT
--block of guanine to GMP
--block of hypoxanthine to IMP

105

Retardation, self mutilation
aggression, hyperuricemia, gout, and choreoathetosis in a kid

Lesch-Nyhan

106

which amino acids are NOT degenerate?

methionine (AUG)
tryptophan (UGG)

107

commaless, nonoverlapping genetic code

read from a fixed starting point. a continuous sequence of bases

108

missense mutation

Changed amino acid

109

single origin of replication

prokaryotes

110

multiple origins of replication

eukaryotes

111

fxn: DNA topoisomerases

Nick in helix=relieve supercoils

112

DNA poly III

ONLY prokaryotic
--3' to 5' exonuclease activity for proofreading

113

DNA poly I

prokaryotic only. degrades RNA primer and replaces it with DNA.
5'-->3' exonuclease activity

114

telomerase

Adds DNA to 3' end of DNA to avoid loss of genetic material

115

nucleotide excision repair

ENDONUCLEASES cut out oligonucleotides with damaged bases

116

xeroderma pigmentosum

mutated nucleotide excision repair

117

base excision repair

GLYCOSYLASES remove damaged bases

118

base excision repair is important in

toxic or spontaneous deamination

119

ataxia telangiectasia mutation

nonhomologous end joining

120

what forms connection btw DNA bases?

3' end OH attackes the phosphate on 5'

121

most abundant RNA

rRNA

122

longest RNA

mRNA

123

smallest RNA

tRNA

124

AUG in prokaryotes codes for

formylmethionine

125

Promoter

Site where RNA poly and other transcription factors bind to DNA upstream from gene locus

126

Enhancer

changes gene expression by binding transcription factors

127

Silencer

repressors bind here

128

Where are enhancers and silencers located?

Close to, far from, or within the gene

129

RNA poly I

rRNA. most numerous type of RNA

130

RNA poly II

mRNA, largest RNA

131

RNA poly III

tRNA

132

what's different about the prokaryotic RNA?

it makes a single RNA polymerase

133

pt eats a mushroom called amanita phalloides and dies. Very high LFTs. mechanism?

a-amanitin
--inhibits RNA polymerase II
--Causes severe hepatotoxicity if ingested

134

heterogeneous nuclear RNA

initial RNA transcript. may NOT necessarily be translated

135

pre-mRNA vs heterogeneous

pre-mRNA is DESTINED for translation

136

where does mRNA processing occur?

In the nucleus.
--If no processing, then mRNA will NOT leave the nucleus

137

three processing steps in mRNA

1. 5' 7-methylguanosine cap
2. polyadenylation tail
3. splicing

138

polyadenylation signal

AAUAAA

139

pre mRNA vs RNA

RNA has been processed and left the nucleus

140

antibodies to snRNPs

lupus

141

snRNP function

Forms a lariat to remove introns

142

what is at the 3' end of tRNA

CCA

143

Aminoacyl-tRNA synthetase

scrutinizes amino acid before and after binding tRNA to it

144

tRNA uses what energy source to attach AA?

ATP

145

tRNA uses what energy source to translocate tRNA from one ribosomal site to another?

GTP

146

antibiotic: binds 30 S and inhitibts formation of initiation complex, and causes misreading

aminoglycosides

147

Block aminoacyl tRNA from entering acceptor site

tetracyclines

148

Block peptidyl transferase

chloramphenicol

149

Blocks release of tRNA after it has donated AA

macrolides

150

trimming

removal of N/C propeptides from zymogens to generate mature proteins

151

p53 and hypophosphorylated Rb inhibit

G1 to S progression

152

RER vs cytosolic ribosomes

cytosolic ribosomes make proteins for intracellular use, not secretion.

153

Golgi actions

1. modifies N oligosaccharide on asparagine
2. adds mannose-6 phosphate to proteins for trafficking to lysosomes
3. Adds O oligosaccharides on serine/threonine

154

coarse facial features
clouded cornea
restricted joint movement
high plasma levels of LYSOSOMAL enzymes

I cell disease.

155

Cause of I cell disease

failure of addition of mannose 6 phosphate to lysosome proteins

156

COPI protein

Transports within Golgi in RETROgrade fashion to ER

157

COPII protein

Transports within Golgi in ANTEROgrade fashion from ER to golgi

158

ubiquitin associated with

proteasome

159

peroxisome breaks down

long fatty acids and amino acids

160

bacterial infections
partial albinism
peripheral neuropathy

chediak higashi syndrome

161

dynein

retrograde transport (+ to -)

162

kinesin

anterograde transport (- to +)

163

Drugs that act of microtubules

mebendazole
griseofulvin
cholchisine
paclitaxel

164

WHat allows cilia to move?

axonemal dynein: an ATPase with a dynein arm

165

Intermediate filaments are used for

maintaining structure
-vimentin
-desmin
-cytokeratin
-lamins
-GFAP

166

vimentin stains for

connective tissue

167

desmin stains for

muscle

168

cytokeratin stains for

epithelial cells

169

GFAP stains for

neuroglia

170

Neurofilaments stains for

neurons

171

ouabain

inhibits the K bindings site of Na/K ATPase

172

Type I collagen

bone, skin, tendon

173

Type II collagen

cartilage

174

Type III collagen

Reticulin

175

Type IV collagen

Basement membrane

176

Ehler danhlos has what collagen defect?

type III

177

fibrillin fxn

sheath around elastin

178

fibronectin fxn

Binds integrins on cell surface to ECM components (ex: collagen)

179

Four steps of collagen synthesis INSIDE fibroblasts

1. Synthesis (Gly-Pro-Lys)
2. Hydroxylation of proline and lysine
3. Glycosylation of hydroxylysine and triple helix formation held by H and disulfide bonds
4. Exocytosis of procollagen into extracellular space

180

Four steps of collagen synthesis OUTSIDE fibroblasts

1. cleavage of disulfide terminal regions of procollagen=ins=insoluble
2. cross linking of lysine-hydroxyllysine to make collagen

181

vitamin C affects

hydroxylation of proline and lysine residues

182

ehlers danlos affects what part of collagen synthesis?

cross linking of tropocollagen

183

osteogenesis imperfecta inheritance

autosomal dominant

184

ehler danlos associated with

joint dislocation
berry aneurysms
organ rupture

185

Inheritance of alport syndrome

X linked recessive

186

presentation of alport

progressive deafness and nephritis

187

elastin fxn

stretchy component of skin, lungs, large arteries, ligamenta flava

188

Elastin is rich in what components?

Proline and glycine

189

what gives elastin its elastic properties

cross linking

190

Southwestern blot

identifies DNA binding proteins
--with labeled oligonucleotides
--Example: Leucine zipper

191

microarrays are used to detect

Single nucleotide polymorphism

192

Indirect vs direct elisa

Indirect: uses an antigen to detect an antibody
Direct: uses a test antibody to detect an antigen

193

RNA interference

dsRNA used to promote degradation of a target mRNA

194

Lac I

repressor protein

195

Lac P

promoter site

196

Lac O

operator region

197

Lac Z

B-galactosidase

198

Lac Y

permease (lets lactose into cell)

199

Describe Lac operon when lactose is not present

LAC I is being synthesized
--repressor protein binds to operator preventing transcription
--high glucose, low CAMP, no CAP binding

200

Describe lac operon when lactose IS present

Lactose binds repressor protein made by Lac I
--operator is open
--polymerase attaches

201

variable expressivity

phenotype varies among individuals with the same phenotype

202

pleiotropy

one gene
multiple phenotypes (PKU)

203

linkage disequilibrium

tendency for alleles at 2 loci to occur together more frequently than expected by chance

204

Locus heterogeneity

mutations at different loci produce the same phenotype. Ex: albinism

205

heteroplasmy

Presence of both normal and mutated mitochondrial DNA

206

uniparental disomy

two copies of a chromosome from one parent, none from the other

207

heterodisomy

offspring is heterozygous for alleles, both from one parent

208

isodisomy

offspring is homozygous for alleles, both from one parent

209

heterodisomy= error in meiosis I or II?

Meiosis I

210

isodisomy=error in meiosis I or II?

Meisosis II

211

mental retardation
hyperphagia
obesity
hypogonadism
hypotonia

prader willi

212

mental retardation
seizures, ataxia
inappropriate laughter

angelman's

213

Praeder willi caused by

Paternal allele not expression (mom is always silenced)

214

Angelman caused by

Maternal allele not expressed (dad is always silenced)

215

Praeder willi and angelman's syndromes are on chromosome

15

216

stroke like episodes, lactic acidosis with ragged red fibers on modified Gomori trichrome stain

mitochondrial encephalopathy

217

myoclonic epilepsi with ragged red fibers

MERRF

218

achondroplasia inheritance

Dom

219

FAP inheritance

dom

220

cystic fibrosis inheritance

recessive

221

albinism inheritance

recessive

222

marfan's inheritance

dominant

223

MEN inheritance

dominant

224

thalassemia inheritance

recessive

225

huntington's inheritance

dominant

226

hereditary hemorrhagic telangiectasia (osler-weber, rendu) inheritance

dominant

227

spherocytosis inheritance

dominant

228

familial hypercholesterolemia inheritance

dominant

229

glycogen storage disease inheritance

recessive

230

hemochromatosis inheritance

recessive

231

phenylketonuria inheritance

recessive

232

sphingomyelinase inheritance

recessive

233

ADPKD chromosome

16

234

FAP chromosome

5

235

ADPKD associated with

berry aneurysms
mitral valve prolapse

236

telangiectasias,
nose bleeds
skin discolorations
AVMs

osler-weber rendu

237

Huntington's disease located on chromosome

4

238

NF1 on chromosome

17

239

NF2 on chromosome

22

240

VHL on chromosome

3

241

CF gene on chromosome

7

242

fxn of CFTR channel

1. secretes Cl- from lungs and GI tract
2. reabsorbs Cl- from sweat

IN CF, this channel has a problem in post-translational processing, resulting in proteasomal degradation after synthesis

243

Tx: CF

N-acetylcysteine to loosen mucus plugs

244

X linked recessive disorders

B Wise Fool's GOLD Has Silly HOpe
--Bruton's x linked agammaglobulinemia
--Wiskott-Aldrich
--Fabry's
--G6PD
--Ocular albinism
--Lesch-Nyhan
--Duchenne's
--Hunter's syndrome
--Ornithine transcarbamoylase deficiency

245

huntington's disease on chromosome

4

246

Duchenne's caused by

deleted dystrophin. Longest gene, so higher rate of spontaneous mutation

247

Onset of becker's

teens or YA
--Duchenne presents before 5 years of age

248

Function of Duchenne's

Anchors muscle fibers in skeletal and cardiac

249

achondroplasia gene

FGF3

250

Large testes, jaw, and ears
autism
mitral valve prolapse

Fragile X

251

Fragile X gene

FMR1

252

trinucleotide in fragile X

CGG

253

myotonic distrophy mutation

CTG

254

friederich's ataxia mutation

GAA

255

dx of CF

1. excess chloride in sweat
2. transepithelial potential difference

256

pyruvate kinase

PEP-->pyruvate

257

lactate dehydrogenase

pyruvate-->lactic acid

258

pyruvate decarboxylase

pyruvate-->oxaloacetate

259

Pyruvate dehydrogenase

pyruvate-->acetylcoA

260

ultrasound shows increased nuchal translucency in first trimester

down's syndrome or patau

261

quad screen in down's syndrome

1. decreased a-FP
2. Increased bHcG
3. decreased estriol
4. increased inhibin A

262

Down's syndrome=increased risk of

ALL
Alzheimer's

263

Quad screen
1. low aFP
2. low hCG
3. low estriol
4. normal inhibin A

Edwards

264

Quad screen
1. low hCG
2. low pAPP-A
3. Increased nuchal translucency

patau

265

most common cause of Down's

meiotic nondisjunction

266

mental retardation, rocker bottom feet, congenital heart disease
--low set ears, micrognathia

Edwards. Die within 1 year

267

mental retardation, rocker bottom feet, congenital heart disease
--cleft lip
--polydactyly
--holoprosencephaly

Patau. Die within 1 year

268

Robertsonian translocation

when short arms of chromosome are lost. balanced translocations usually are normal.

269

robertsonian translocation occurs on chromosome pairs

13,14,15,21,22

270

baby with high pitched mewing
--microcephaly
--retardation
--epicanthal folds
--VSD

Cri du chat

271

deletion in cri du chat

chromosome 5p

272

elfin facies
--hypercalcemia
--extreme friendliness with strangers
--cardiovacscular problems

williams

273

Williams caused by deltion on

chromosome 7. includes deletion of elastin gene

274

22q11 deletion sx

CATCH 22
-Cleft palate
-abnormal facies
-thymic aplasia
-cardiac defects
-hypocalcemia

275

digeorge

22q11
-thymic, parathyroid, cardiac problems

276

velocardiofacial syndrome

22q11
-palate, facial, cardiac defect

277

vitamin toxicity most common with which vitamins?

A,D,E,K

278

B1

thiamine

279

B2

riboflavin

280

B3

niacin

281

B5

pantothenic acid

282

B6

pyridoxine

283

B7

biotin

284

B9

folate

285

vitamin C

ascorbic acid

286

which water soluble vitamins are stored for a long time in the body?

B12 and folate (in liver)

287

night blindness and dry skin

Vitamin A deficiency

288

arthralgias, fatigue, alopecia, sore throat, headaches

vitamin A excess

289

Thiamine is a cofactor for

1. pyruvate dehydrogenase
2. alpha ketoglutarate dehydrogenase
3. transketolase
4. branched chain amino acid dehydrogenase

290

alcoholic with malnutrition presents with polyneuritis, and symmetrical muscle wasting

Dry beriberi

291

alcoholic with malnutrition presents with dilated cardiomyopathy and edema

wet beri beri

292

riboflavin function

Cofactor in oxidation and reduction (FADH2)

293

cheilosis, corneal vascularization

vitamin B2 deficiency

294

niacin fxn

NAD and NADP+ component

295

niacin is derived from

tryptophan

296

synthesis of niacin requires

B6

297

pellagra

niacin deficiency

298

diarrhea, dementia, dermatitis

pellagra

299

hartnup disease

decrease in tryptophan absorption

300

causes of niacin deficiency

1. malignant carcinoid (use up all your tryptophan)
2. INH (low B6)
3. pellagra

301

fxn: pantothenate

component of CoA and fatty acid synthase

302

dermatitis, enteritis, alopecia
--adrenal insufficiency

B5 deficiency

303

pyridoxine fxn:

1. heme synthesis
2. neurotransmitter synthesis
3. transamination, decarboxylation, and glycogen phosphorylase

304

convulsions, hyperirritability, peripheral neuropathy, sideroblastic anemias

pyridoxine deficiency

305

Biotin fxn

1. pyruvate carboxylase
2. acetyl coA carboxylase (acetylCoA-->malonylCoA)
3. propionyl-CoA carboxylase (propionyl-CoA-->methylmalonylCoA)

306

excessive ingestion of raw eggs with dermatitis, alopecia, enteritis

biotin deficiency

307

Folic acid use

Makes THF, tetrahydrofolate

308

B12 vs folate deficiency

B12 has neuro symptoms

309

which vitamins do you get from leafy green veggies?

1. Vitamin A
2. Vitamin B9 (folate)

310

vegans at risk for which vitamin deficiency?

B12

311

subacute combined degeneration

B12 deficiency

312

infectious cause of B12 deficiency

diphyllobothrium latum

313

B12 is a cofactor for

1. homocystein methyltransferase
2. methylmalonyl-CoA

314

S-adenosyl-methionine

donates methyl units
--converts NE to epinephrine

315

regeneration of methionine is dependent on

B12 and folate

316

methionine is made of

homocystein + CH3

317

To regenerate homocystein, you need

homocystein methyltransferase
-->Addsmethyl group from THF-CH3

318

vitamin C helps with the absorption of

iron. Therefore, don't give to people with hemochromatosis or regular transfusions

319

vitamin C fxn

hydroxylation of proline and lysine in collagen synthesis
--dopamine B hydroxylase: converts dopamine to NE

320

hypercalcemia and hypercalciuria in pt taking too many vitamins

Vitamin D overdose.

321

vitamin D overdose is more common in what condition?

sarcoidosis

322

Vitamin E fxn

protects erythrocytes and membranes from free radical damage

323

hemolytic anemia and posterior column demyelination: what vitamin deficiency?

vitamin E. E is for erythrocytes

324

Vitamin K fxn

gamma carboxylation of gutamic acid on clotting proteins

325

which vitamins are missing from breast milk?

Vitamin D and K

326

loss of smell, delayed wound healing, hypogonadism, and decreased adult hair

ziinc deficiency--predisposes to alcoholic cirrhosis

327

fomepizole use

For methanol or ethylene glycol poisoning

328

mech: fomepizole

inhibits alcohol dehydrogenase

329

disulfiram mechanism

inhibits acetaldehyde dehydrogenase

330

Explain how ethanol causes acidosis and fatty acid synthesis and hypoglycemia

All caused by increased push to regenerate NAD+
1. pyruvate-->lactic acid
2. oxaloacetate-->malate
-->malate excess inhibits gluconeogenesis
-->shuts down TCA cycle
-->acetylcoA goes to ketone
-->excess NADPH from breakdown of malate
-->fatty acid synthesis

331

Kid with malnutrition, edema, anemia, and fatty liver

Kwashiorkor

332

marasmus

muscle wasting from malnutrition

333

Fatty acid synthesis occurs in the

cytoplasm

334

HMP shunt occurs in the

cytoplasm

335

acetylcoA production occurs in the

mitochondria

336

Which processes occur both in the mitochondria and cytoplasm?

heme
gluconeogenesis

337

RDS glycolysis

PFK1

338

RDS gluconeogenesis

F1,6 bisphosphonate

339

RDS TCA cycle

isocitrate dehydrogenase

340

RDS glycogen synthesis

glycogen synthase

341

RDS glycogenolysis

glycogen phosphorylase

342

RDS HMP shunt

g6PD

343

RDS pyrimidine synthesis, de novo

carbamoylphosphate synthetase II

344

RDS purine synthesis de novo

glutamine PRPP amidotransferase

345

RDS urea cycle

carbamoyl phosphate synthetase I

346

RDS fatty acid synthesis

AcetylCoA carboxylase

347

RDS fatty acid oxidation

carnitine acyltransferaseI

348

RDS ketogenesis

HMG coA synthase

349

What regulates carnitine acyltransferase I in fatty acid oxidation?

malonyl coA inhibits

350

Glucokinase found in

Liver and beta cells of the pancreas.

351

which is induced by insulin, glucokinase or hexokinase?

glucokinase. High capacity but low affinity

352

Very long chain fatty acids are degraded by

peroxisomes. Cannot undergo beta oxidation by mitochondria

353

8 month old with hyperactivity, tremor, and seizures. Pt has blue eyes, fair skin, and mousy odor

Phenylketonuria

354

What do you need to supplement PKU with?

Tyrosine. Can no longer synthesis tyrosine from phenylalanine

355

Describe the G protein pathway

1. Activation of adenylate cyclase
2. Activation of protein kinase A
3. physiologic effects

356

Which hormones use G protein receptors?

1. TSH
2. Glucagon
3. PTH
4. Beta adrenergic receptors

357

Pt presents with increased serum methionine and severe chest pain and MI

homocystinuria.
--defect in cystathionine beta synthetase (converts homocystine to cystathionine.

358

Most common cause of PKU

deficiency of phenylalanine hydroxylase

359

mutation in Sickle Cell Disease

Pt replaces glutamate with valine, a nonpolar amino acid. This changes the charge
--In hemoglobin C, lysine replaces the glutamate residue, making it less negatively charged. Usually asymptomatic but mild hemolytic anemia and splenomegaly

360

Effect of hyperammonia in the brain

depletion of glutamate and accuulation of glutamine

361

ALA synthase requires what vitamin?

pyridoxal phosphaet

362

tyrosine kinase effect after binding

phosphorylation of protein phosphatase

363

Why is Fructose 1 phosphate metabolized much faster than glucose?

It bypasses the major regulatory step in glycolysis=PFK1

364

HGPRT converts

guanine back to GMP
and
Hypoxanthine to IMP

365

adenosine deaminase

coverts adenosine to inosine to be broken down to hypoxanthine or recycled to IMP

366

16S rRNA in prokaryotic ribosome

Contains complementary mRNA sequence necessary for binding shine delgarno and translation

367

Translocation of aatRNA requires

GTP

368

23S rRNA

facilitates peptide bond formation

369

which vitamin can you give to a kid with measles?

vitamin A

370

how is alanine converted back to pyruvate?

combined with a-ketoglutarate

371

Describe the mTOR pathway

1. autophosphorylation of tyrosine
2. Phosphoinositide 3 kinase activation
3. Activation of protein kinase B
4. Increased gene transcription
--THIS PATHWAY IMPORTANT IN APOPTOSIS AND CEL PROLIFERATION