Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Step 1 Complete > Biochem 2 USMLE > Flashcards

Biochem 2 USMLE Flashcards

1
Q

underproduction of heme causes this type of anemia

A

microcytic hypochromic

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

accumulations of heme intermediates causes thius

A

porphyrias

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

this type of porphyria inhibits ferrochelatase and ALA dehydrase. Cooproporphyrin and ALA accumulate in the urine

A

lead poisoning

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

this type of porphyria results from a deficiency in uroporphyrinogen I synthetase. Porphobilogen and delta-ALA accumulate in urine

A

Acute intermittent porphyria

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

this type of porphyria results from a deficiency in uropophyrinogen decarboxylase. Uroporphyrin accumulates in urine (tea-colored). results in photosensitivity

A

Porphyria cutanea tardia

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

symptoms of porphyrias (5 Ps)

A 
Painful abdomen
Pink urine
Polyneuropathy
Psychological disturbances
Precipitated by drugs
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

heme is scavenged from RBCs and ____ is reused

A

Fe++

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

heme ->_____->bilirubin

A

biliverdin

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

bilirubin is toxic to this organ system

A

CNS

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

bili is transported by this protein

A

albumin

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

bili is removed from the blood by this organ

A

liver

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

bili is conjugated with this ____

A

glucuronate

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

bili is excreted in this supstance

A

bile

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

where in the body is bili processed into its excreted form

A

intestine

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

some ________, an intestinal intermediate, is reabsorbed into blood and excreted as urobilin into urin

A

urobilinogen

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

this poison has a 200x greater affinity than O2 for HGB

A

CO

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

hemoglobin is composed of 4 polypeptide subunits. describe them

A

2 alpha

2 beta

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

HGB exists in 2 forms what are they

A

T (taut) low affinity for O2

R (relaxed) high affinity for O2 (300x)

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

Hgb exibits _______ cooperativity and ________ allostery (accounts for the sigmoid-shaped O2 dissociation curve for hgb), unlike myoglobin

A

positive

negative

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

name the things that favor the relaxed form of hgb (shifting dissociation curve to the right, leading to O2 unloading)

A

increased Cl-,H+,CO2,2,3BPG, hight temp.

mneu: when you’re relaxed, you do your job better (carry O2)

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

what are the fetal hgb subunits

A

2alpha

2gamma

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

fetal hgb has a lower affinity for _____ than adult hgb and thus has a higher affinity for O2

A

2,3-BPG

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

Iron in hgb is in a _____ state (ferrous, Fe++)

A

reduced

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

this is an oxidized form of hgb (ferric, Fe++) that does not bind O2 as readily but has increased affinity for CN-.

A

methemoglobin

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

administer this in cyanide poisoning to oxidize hgb to methemoglobin form

A

nitrites

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

tx toxic levels of METHemoglobin with —–

A

METHylene blue

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

CO2 is transported in the blood by binding to

A

amino acids in the globin chain (at N terminus) but not to heme

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

CO2 binding favors this form of hgb (and thus promotes O2 unloading)

A

taut

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

CO2 must be transported from tissue to lungs, the reverse of O2, and this occurs primarily in what form

A

bicarbinate

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

this is a molecular biology laboratory procedure that is used to synthesize many copies of a desired fragment of DNA

A

polymerase chain reaction (PCR

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

steps of PCR

A

1) DNA is denatured by heating to generate 2 separate strands
2) during cooling, excess premade DNA primers anneal to a specific sequence on each strand to be amplified
3) heat-stable DNA polymerase replicates the DNA sequence following each primer

These steps are repeated multiple times for DNA sequence aplification

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

In this molecular biology technique, a DNA sample is electrophoresed on a gel and then transferred to a filter. The filter is then soaked in a denaturant and subsequently exposed to a labeled DNA probe that recognizes and anneals to its complementary strand. The resulting double stranded labeled piece of DNA is visualized when the filter is exposed to film.

A

southern blot

SNoW DRoP:
Southern=DNA
Northern=RNA
Western=Protein

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

this molecular biology technique, is a similar technique, except that it involves radioactive DNA probe binding to sample RNA

A

northern blot

SNoW DRoP:
Southern=DNA
Northern=RNA
Western=Protein

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

In this molecular biology technique, sample protein is separated via gel electrophoresis and transferred to a filter. Labeled antibody is used to bind to relevant PROTEIN

A

Western drop

SNoW DRoP:
Southern=DNA
Northern=RNA
Western=Protein

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

in this method of testing, a pts blood sample is probed with either:

1) test Ag (coupled to color-generating enzyme)-to see if immune system recognizes it; or
2) Test Ab (coupled to color generating enzyme) to see if certain Ag is present

If the target subsance is present in the sample, the test solution will have an intense color reaction, indicating a positive test result.

A

Enzyme-linked immunosorbent assay (ELISA)

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

ELISA is used in many labs to determine whether a particular ___(e.g., anti-HIV) is present in a pts blood sample. Both the sensitivity and specificity of ELISA approach 100% but both false positive and false negative results do occur

A

Antibody

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

define the genetic term VARIABLE EXPRESSION

A

nature and severity of the phenotype varies from 1 individual to another

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

define the genetic term INCOMPLETE PENETRANCE

A

Not all individuals with a mutant genotype show the mutant phenotype

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

define the genetic term PLEIOTROPY

A

1 gene has >1 effect on an individual’s phenotype

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

define the genetic term IMPRINTING

A

differences in phenotype depend on whether the mutationis of maternal or paternal origin (e.g., AngelMan’s syndrome [Maternal], Prader-Willi syndrome [Paternal]

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

define the genetic term ANTICIPATION

A

Severity of dz worsens or age onset of dz is earlier in succeeding generations (e.g., Huntington’s dz)

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

define the genetic term LOSS OF HETEROZYGOSITY

A

If a pt inherits or develops a mutation in a tumor suppressor gene, the complimentary allele must be deleted/mutated before CA develops. This is not true of oncogenes

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

define the genetic term DOMINANT NEGATIVE MUTATION

A

exerts a DOMINANT EFFECT. A heterozygote produces a nonfxnl altered protein that also prevents the normal gene product from funcioning

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

define the genetic term LINKAGE DISEQUILIBRIUM

A

Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance. Measured in a population, not in a family, and often varies in different populations

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

define the genetic term MOSAICISM

A

occurs when cells in the body have different genetic makeup (e.g. lyonization–random X inactivation in females)

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

define the genetic term LOCUS HETEROGEITY

A

Mutations at different loci can produce the same phenotype (e.g., albinism

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

Hardy-Weinberg law assumes (4)

A

1) there is no mutation occurring at the locus
2) there is no selection for any of the genotypes at the locus
3) Mating is completely random
4) There is no migration into or out of the population

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

If a population is in Hardy-Weinberg equilibrium. p and q are separate allele. 2pq=heterozygote prevalence.

allele prevalence is?
disease prevalence is?

A

p+q=1

p2 + 2pq +q2 =1

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

this mode of inheritance looks like this [p.107]

Often due to defects in sxl genes. Many generations, both male and female, affected. It is often pleiotropic and, in many cases, present clinically after puberty. Family hx is crucial to dx

A

Autosomal dominant

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

this mode of inheritance looks like this [p.107]

25% of offspring from 2 carrier parents are affected. Often due to enzyme deficiencies. Usually seen in only 1 generation. Commonly more severe. Pts often present in childhood.

A

autosomal recessive

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

this mode of inheritance looks like this [p.107]

Sons of heterozygous mothers have a 50% chance of being affected. No male-to-male transmission. Commonly more severe in males. Heterozygous females may be effected.

A

X linked recessive

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

this mode of inheritance looks like this [p.107]

transmitted through both parents. Either male or female offspring of the affected mother may be affected, while ALL female offspring of the affected father are diseased. e.g., Hypophosphatemic rickets.

A

X linked dominant

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

this mode of inheritance looks like this [p.107]

transmitted only through mother. All offspring of affected females may show signs of dz. e.g., Leber’s hereditary optic neuropathy.

A

mitochondrial inheritance

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

This autosomal dominant dz, is ALWAYS BILATERAL, there is a massive enlargement of kidneys due to multiple large cysts. Pts present with pain, hematuria, hyperension, progressive renal failure. 90% of cases are due to mutation in APKD1 (chromosome 16). Associated w/ polycystic liver dz, berry aneurysms, mitral valve prolapse. Juvenile form is recessive

A

Adult Polycystic Kidney Dz

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

This autosomal dominant dz, is characterized by elevated LDL owing to defective or absent LDL receptor. Heterozygotes (1:1500) have cholesterol~300mg/dl. Homozygotes (very raare) have cholesterol ~700+mg/dl, severe atherosclerotic dz early in life, and tendon xanthomas (classically in the Achilles tendon); MI may develop before age 20.

A

Familial hypercholesterolemia (hyperlipidemia type IIA)

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

This fibrillin gene mutation results in connective tissue disorders. It results in skeletal abnormalities–tall with long extremities (arachnodactylyl), hyperextensive joints, and long, tapering fingers and toes.
CV–cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms. Floppy mitral valve.
Ocular-subluxation of lenses

A

Marfan’s syndrome

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

This autosomal dominant dz, is characterized by cafe-au-lait spots, neural tumors, Lisch nodules (pigmented iris hamartomas). Also marked by skeletal d/o (e.g., scoliosis), pheochromocytoma, and increased tumor suceptibility. On long arm of chromosome 17

A

Neurofibromatosis type 1 (von Recklinghausen’s dz)

mneu: chrom 17-17 letters in von Recklinghausen

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

This autosomal dominant dz, is characterized by bilateral acoustic neuroma, optic pathway gliomas, juvenile cataracts.

A

Neurofibromatosis type 2

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

Neurofibromatosis type 2 is on this gene on this chromosome

A

NF2 gene on chrom 22

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

This autosomal dominant dz, is characterized by facial lesions (adenoma sebaceum), hypopigmented “ash leaf spots” on skin, cortical and retinal hamartomas, seizures, mental retardation, renal cysts, cardiac rhabdomyomas. Incomplete penetrance, variable presentration.

A

Tuberous sclerosis

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

This autosomal dominant dz, is characterized by hemangioblastomas of retina/cerebellum/medulla; about half of affected individuals develop multiple bilateral renal cell carcinomas and other tumors.

A

Von Hippel-Lindau dz

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

Von Hippel-Lindau dz is associated with deletion of this gene on this chromosome

A

VHL gene (tumor suppressor) on chromosome 3 (3p)

mneu: VHL=3 words=chrom 3

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

This autosomal dominant dz, is characterized by depression, progressive dementia, choreiform movements, caudate atrophy and decreased levels of GABA and ACH in the brain. Symptoms manifest in affected individuals between the ages of 20 and 20.

A

Huntington’s dz

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

Huntington’s dz gene is located on this chromosome. It is a _____ repeat d/o

A

chrom 4
triplet repeat

mneu: “Hunting 4 food”

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

This autosomal dominant dz, is characterized by the colon becoming covered with adenomatous polyps after puberty. Progresses to cancer unless resected.

A

familial adenomatous polyposis

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

familial adenomatous polyposis is a deletion of this chromosome

A

5

mneu: 5 letters in “polyp”

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

This autosomal dominant dz, is characterized by spheroid erythrocytes; hemolytic anemia; increased MCHC. Splenectomy is curative

A

hereditary spherocytosis

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

This autosomal dominant dz, is characterized by autosomal-dominant cell-signaling defect of fibroblast growth factor (FGF) receptor 3. Results in dwarfism; short limbs; but head and trunk are normal size

A

achondroplasia

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

name 5 autosomal-recessive dzs

A

CF, albinism, alpha1 antitrypsin deficiency, PKU, thalassemias, sickle cell anemia, glycogen storage dz, mucopolysaccharidosis (except Hunter’s), sphingolipidosies (except Fabry’s), infant polycystic kidney dz, hemochromatosis

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

CF has this inheratance

A

autosomal recessive

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

what is the gene and chromosome of CF

A

CFTR on chromosome 7

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

what is the defective channel in CF that results in secretion of abnormally thick mucus that plugs lungs, pancreas, and liver.

A

Cl-

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

the recurrent pulmonary infections in CF are often due to these 2 bugs

A

pseudomonas and S. aureus.

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

this CF complication results in malabsorption and steatorrhea

A

pancreatic insufficiency

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

CF can cause this in this in newborns

A

meconium ileus

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

how do you dx CF

A

incresed concentration of Cl-ions in a sweat test.

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

CF can cause this in males due to absent vas deference

A

infertility

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

these vitamen deficiencies can be present in CF. It may present as failure to thrive in infancy

A

ADEk

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

CF is the most common lethal genetic dz in this racial group

A

caucasians

80
Q

in CF this tx will loosen mucous plugs

A

N-acetylcystein

81
Q

Give 5 X-linked recessive disorders

A

fragile X, duchenne’s muscular dystorphy, hemophilia A & B, Fabry’s, G6PD deficiency, Hunter’s syndrome, ocular albinism, Lesch-Nyhan syndrome, Bruton’s agammaglobinemia, Wiskott-Aldrich syndrome

82
Q

T or F. Female carriers of X-linked recessive d/o are rarely affected because of random inactivation of X chromosomes in each cell

83
Q

In this X-linked d/o that begins before 5 y/o, weakness begins in the pelvic girdle muscles and progresses superiorly. YOu may see pseudohypertrophy of calf muscles due to fibrofatty replacement of muscle; cardiac myopathy. Often times kids will use the Gower’s manuver, requiring assistance of the upper extremities to stand up, is characteristic (indicates proximal lower limb weakness)

A

Duchenne’s muscular deficiency

84
Q

Duchenne’s muscular deficiency is an X linked d/o that results from a frame-shift mutation that deletes this gene which leads to accelerated mm breakdwon.

A

dystrophin gene

mneu: Duchenne’s = Deleted Dystrophin

85
Q

In this d/o the mutation of the dystrophin gene is less sever than Duchenne’s

A

Becker’s

86
Q

fragile x syndrome is an x-linked defect affecting the methylation and expression of the ____ gene

87
Q

how common is fragile X

A

commmon
2nd most common cause of mental retardation
most common cause is down sydnrome

88
Q

give some PE findings of fragile X

A

macro-orchidism (enlarged testes), long face w/ large jaw, large everted ears, and autism

mneu: Fragile X=eXtra-large testes, jaw, ears

89
Q

fragile X syndrome is a ______ repeat d/o (CGC)n that may show genetic anticipation (germlike expansion in females).

90
Q

Give 3 trinucleotide repeat expansion dz

A

HUNTINGton’s dz, MYotonic dystrophy, FRIEDreich’s ataxia, frafile X syndrome.

mneu: TRY (trinucleotide) HUNTING for MY FRIED eggs (X)

91
Q

trinucleotide repeat expansion dz may show this which refers to increased disease severity and age of severity in successive generations

A

anticipation

92
Q

Give 5 common congenital malformations

A

1) heart defects
2) hypospadias
3) cleft lip
4) congenital hip dislocation
5) spina bifida
6) Anencephaly
7) Pyloric stenosis

93
Q

this common congenital malformation is associated with projectile vomiting

A

pyloric stenosis

94
Q

give 3 autosomal trisomies

A

down syndrome
edwards’ syndrome
patau’s syndrome

95
Q

give the genetics of Down syndrome

A

trisomy 21

96
Q

how common is down syndrome

A

most common chromosomal d/o and cause of congenital mental retardation

97
Q

give some physical exam findings of down syndrome

A

mental retardation, flat facial profile, prominant epicathal folds, simian crease, duodenal atresia, congenital heart dz (most common malformation is septum primum-type ASD due to endocardial cushion defects).

98
Q

what dzs are people w/ down syndrome at risk for as they get older

A

alzheimer’s dz (>35 y/o)

increase risk of ALL

99
Q

give tips off in utero that a baby may be trisomy 21

A

decreased levels of alpha fetoprotein, inceased levels of beta hCG, increased nuchal translucency

100
Q

95% of cases of trisomy 21 are due to this type of nondisjxn of homologous chromosomes

A

meiotic

4% of cases due to robertsonian translocation
1% due to Down mosaicism (no maternal association)

101
Q

What is the risk of down syndrome in women < 20 y/o?

>45 y/o

A

1: 1500
1: 25

102
Q

children with this autosomal trisomy have severe mental retardation, rocker bottom feet, low-set ears, micrognathia (small jaw), congenital heart dz, clenched hands, prominent occiput. Death usually occcurs within 1 year of birth

A

Edwards’ syndrome
(trisomy 18)
1:8000

mneu: Election age (18)

103
Q

children with this autosomal trisomy have severe mental retardation, microphthalmia, microcephaly, cleft lip/palate, abnormal forebrain sxs, polydactyly, congenital heart dz. Death usually occurs w/in 1 year of birth

A

Patau’s syndrome
(trisomy 13)
1:6000

mneu: Pubety (13)

104
Q

findings of this d/o include microcephaly, severe mental retardation, high ptiched crying/mewing, epicanthal folds, cardiac abnormalities

what is the congenital deletion

A

short arm of chromosome 5
(46,XX or XY, 5p)

Cri-du-chat syndorme

105
Q

Cleft palate, Abnormal facies, Thymic aplasia (T-cel deficiency), Cardiac defects, Hypocalcemia (secondary to parathyroid aplaisia)

A

22q11

CATCH-22

106
Q

22q11 has variable presentation as these 2 syndromes

A

DiGeorge Sydnrome (thymic, parathyroid, and cardiac defects) or velocardiofacial syndrome (palate, facial, and cardiac defects)

107
Q

what are the fat soluble vitamens

108
Q

this fat soluble vitamen is key in vision

109
Q

this fat soluble vitamen is key for bone calcification and Ca+ homeostasis

110
Q

this fat soluble vitamen is key in clotting

111
Q

this fat soluble vitamen is a key antioxident

112
Q

thiamine

113
Q

riboflavin

114
Q

niacin

115
Q

this water soluble viatamen is key for blood and neural development

116
Q

this fat soluble vitamen is key for the CNS and blood

A

B12 (cobalamin)

117
Q

pyridoxine/Pyridoxal/Pyridoxamine

118
Q

the absorption of fat soluble vitamens is dependent on these 2 organs

A

gut(ilium) and pancreas

119
Q

is toxicity more common in water soluble or fat soluble vitamens

120
Q

malabsorption syndromes (steatorrhea), such as cystic fibrosis and sprue, or mineral oil intake can cause these vitamin deficiencies

121
Q

Water soluble vitamens all wash out easily from the body except this vitamen that is stored in the liver

122
Q

B1

A

thiamine: TTP

123
Q

B2

A

riboflavin: FAD, FMN

124
Q

B3

A

niacin: NAD+

125
Q

B5

A

Pantothenate: CoA

126
Q

B12

127
Q

C

A

ascorbic acid

128
Q

pt presents with dermatitis, glossitis, and diarrhea. What vit deficiencies

129
Q

this vitamen is a constituent of visual pigments (retinal)

A

A

mneu: RETINOL is vitamen A, so think RETIN-A (used topically for wrinkles and acne)

130
Q

give 3 symptoms of vit A deficiency

A

night blindness, dry skin, impared immune response

131
Q

give 3 symptoms of vit A excess

A

arthralgias, fatigue, headaches, skin changes, sore throat, alopecia

132
Q

this vitamen fxs in thiamine pyrophosphate, a cofactor for oxidative carboxylation of alpha-keto acids (pyruvate, alpha ketogluterate) and a cofactor for transketolase in the HMP shunt

A

vitamen B1 (thiamine)

133
Q

give 2 conditions that can result from vit B1 (thiamine) deficiency

A

Beriberi and Wernicke-Korsakoff syndrome

mneu: Ber1Ber1

134
Q

this type of beriberi is characterized by polyneuritis and mm wasting

135
Q

this type of beriberi is characterized by high-output cardiac failure (dilated cardiomyopathy, edema

136
Q

this vitamen is a cofactor in oxidation and reduction (e.g., FADH2)

A

vitamen B2 (riboflavin)

137
Q

give a few signs of vit B2 (riboflavin) deficiency

A

angular stomatitis, cheilosis, corneal vasculation

mneu: the 2 C’s

138
Q

FAD & FMN are derived from this vitamen

A

riboFlavin

139
Q

B2=___ATP

140
Q

this vitamen is a constituent of NAD+, NADP+ (used in redox reactions). Derived from tryptophan using vit B6

A

vitamen B3 (niacin)

141
Q

give the 3 Ds of Pellagra

A

diarrhea, dermatitis, dementia (also beefy glossitis)

142
Q

deficiency of vit B3 (niacin can be caused by hartnup dz. Why?

A

decreased tryptophan absorption

143
Q

deficiency of vit B3 (niacin can be caused by malignant carcinoid syndrome. Why?

A

increased tryptophan metabolism

144
Q

deficiency of vit B3 (niacin can be caused by INH. Why

A

decrease vit B6

145
Q

NAD is derived from _______

146
Q

B3=__ATP

147
Q

this vitamne fxs as a constituent of CoaA (a cofactor for acyl transfors) and component of fatty acid synthase.

A

vitamen B5 (pantothenate)

mneu: Pantothen-A is in CoA

148
Q

give some signs of vit B5 deficiencies

A

dermatitis, enteritis, alopecia, adrenal insufficiency

149
Q

this vitamen fxs converted to pyridoxal pyridoxal phosphate, a cofactor used in transamination (e.g., ALT & AST), decarboxylation, and heme synthesis

A

vitamen B6 (pyridoxine)

150
Q

give signs of vit B6 (pyridoxine)

A

convulsions, hyperirritability (deficiency inducible by INH and oral contraceptives), peripheral neuropathy.

151
Q

this vitamen is a cofactor for homocysteine methylation (transfers CH3 groups as methylcobalamin) and methylmalonyl-CoA handling.

A

vitamin B12 (cobalamin)

152
Q

vitamen B12 is stored primarily in this organ

153
Q

vitamme B12 is synthesized only by microorganisms and is found only in this type of food

A

animal products.

154
Q

vitamen B12 is usually caused by malabsorption– give a few examples

A

sprue, enteritis, Diphyllobothrium latum

155
Q

vitamen B12 can be caused by pernicious anemia which is caused by a lack of this

A

intrinsic factor

156
Q

vit B12 can be caused by absense of terminal ileum for example in this GI dz

A

chron’s dz

157
Q

this test is used to detect vit B12

A

schillng test

158
Q

abnormal myelin is seen in B12 deficiency, possibly due to decreased_______ or increased ________ (from metabolism of accumulated methylmalonyl-CoA)

A

methionine

methylmalonic acid

159
Q

this is the most common vitamen deficiency in the US

A

folic acid

160
Q

this vit fxs in coenzyme (tetrahydrofolate) for 1 carbon transfer, involved in methylation reactions. It is important for synthesis of nitrogenous bases in DNA and RNA

A

folic acid

161
Q

give some signs and symptoms of folic acid deficiencies

A

macrocytic, megaloblastic anemia (often no neuro symptoms, as opposed to vitB12

162
Q

what kind of foods are high in folate

A

green leafy veggies

mneu: FOLate from FOLiage

163
Q

supliment folic acid when

A

early pregnancy-reduces neural tube defects

164
Q

PABA is the folic acid precursor in bacteria. these antimicrobials work because they are PABA analogs

A

sulfa drugs and dapsone

165
Q

this vitamen is a cofactor for carboxylations:

1) Pyruvate ->oxaloacetate
2) Acetyl-CoA ->malonyl-CoA
3) Proprionyl-CoA ->methhylmalonyl CoA

166
Q

biotin deficiency can be caused by using these drugs or eating these

A

antibiotics
raw eggs

mneu: AVIDin in egg whites AVIDly binds biotin

167
Q

give some symptoms of biotin deficiency

A

dermatitis, enteritis

168
Q

give some signs of vit C deficiency

A

scurvy–swollen gumbs, bruising, anemia, poor wound healing

169
Q

vit C is necessary for hydroxylation of _____ and _____ in collagen synthesis

A

proline
lysine

mneu: vit C Cross-links collagen. British sailors carried limes to prevent scury (origin of word “limey”

170
Q

vit C facilitates absorption of this nutrient

A

Fe++

keeps it in a reduced state-more absorpable

171
Q

vit C is necassary as a cofactor for dopimine in conversion to this neurotransmitter

172
Q

this is the form of vit D found in milk

A

D2 (ergocalciferol)

173
Q

this is the form of vit D formed in sun-exposed skin

A

D3 (cholecalciferol)

174
Q

this is the storage form of vit D

175
Q

this is the active form of vit D

A

25-(OH)2D3

176
Q

give some signs of vit D deficiency

A

rickets in children (bending bones), osteomalacia in adults (soft bones) and hypocalcemic tetany

177
Q

what is the fx of vit D

A

increase intestinal absorption of Ca++ & phosphate

178
Q

what are some signs of vit D excess

A

hypercalcemia, loss of appetite, stupor.

179
Q

what dz might you see excess vit D in

A

sarcoidosis

(dz where epitheliod macrophages convert vitD into its active form

180
Q

vit E deficincy results in a fragility of these blood cells

A

erythrocytes

mneu: vit E is for Erythrocytes

181
Q

what is the fx of vit E

A

it is an antioxidant that protects erythrocytes from hemolysis

182
Q

this vitamen funcitons to catalyze gamma-carboxylation of glutamic acid residues on various proteins concerned with blood clotting.

A

vit K

mneu: K is for Koagulation

183
Q

How is vit K synthesized. What drugs can cause vitK deficiency

A

intestinal flora

prolonged use of broad spectrum antibiotics

184
Q

vit K deficiency can result in this problem in neonates (what would PT, PTT, & bleeding time be)

A

neonatal hemorrhage w/ increased PT and increased aPTT but normal bleeding time

185
Q

what are the vit K dependent clotting factors

A

II,VII,IX,X and protein C & S

186
Q

this drug is a vitK antagonist

187
Q

give a few signs of zinc deficiency

A

delayed wound healing, hypogonadism, decreased axillary, facial, and pubic hair. It may predispose to alcoholic cirrhosis.

188
Q

this enzyme catalyzes EtOh to acetaldehyde and reduces NAD+ to NADH

A

alcohol dehydrogenase

189
Q

this enzyme catalyzes acetaldehyde to Acetate and reduces NAD+ to NADH

A

acetaldehyde dehydrogenase

190
Q

what is the limiting reagent in etoh metabolism

191
Q

what is the kinetics of alcohol dehydrogenase

A

zero order

192
Q

how does disulfram (antabuse)work.

A

inhibits acetaldehyde dehydrogenase–acetaldehyde accumulates contributing to hangover symptoms

193
Q

describe ethanol hypoglycemia

A

ethanol metabolism increases NADH/NAD+ ratio in the liver, causing diversion of pyruvate to lactate and OAA to malate, thereby inhibiting gluconeogenesis and leading to hypoglycemia.

194
Q

altered NADH/NAD+ ratio in the liver is responsible for this change seen in chronic alchololics

A

hepatic fatty change (hepatocellular steatosis)-shunting away from glycolysis and toward fatty acid synthesis

195
Q

this is protein malnutrition resulting in skin lesions, edema, liver malfxn (fatty change). Clinical picture is a small child w/ a swollen belly

A

kwashiorkor

mneu: resutls from a protein deficient MEAL
Malabsorption
Edema
Anemia
Liver (fatty
196
Q

this results from protein-calorie malnutrition resulting in tissue wasting

Step 1 Complete (29 decks)

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