BiochemII Flashcards
1
Q
Autorecessive disease
A
auto rec polycystic kidney disease CF glycogen storage disease hemochromatosis kartagener syndrome mucopolysaccharidoses phenylketonuria sickle cell anemia spingolipidoses thalassemias wilson disease
2
Q
X linked recessive disorders
A
Bruton agammaglobulinemia Wiskott Aldrich Fabry disease G6PD deficiency Leschy Nyan Duchene Hemophilias A B OTC deficiency
3
Q
Fragile X syndrom
A
X linked methylation of FMRI gene
CGG repeat
big testes, retardation, long face, large jaw, large everted ears, autism, mitral valve prolapse
4
Q
repeat in Friedreich ataxia
A
GAA
5
Q
repeat in huntingtons
A
CAG
6
Q
repeat in myotonic dystrophy
A
CTG
7
Q
chrom 3
A
VHL, renal cell carcinoma
8
Q
chrom 4
A
auto dom PKD with PKD2
huntington
9
Q
chrom 5
A
cri du chat, familial adenomatous polyposis
10
Q
chrom 7
A
williams syndrome
CF
11
Q
chrom 9
A
friedrich ataxia
12
Q
chrom 11
A
wilms tumor
13
Q
chrom 13
A
patau syndrome
wilson disease
14
Q
chrom 15
A
prader willi
angelman
15
Q
chrom 16
A
AD PKD with PKD1 defect
16
Q
chrom 17
A
NF1
17
Q
chrom 18
A
edwards
18
Q
chrom 21
A
downs
19
Q
chrom 22
A
NF2 and digeorge
20
Q
X chrom
A
fragile X
X linked agammaglobulinemia
Klinefelter syndrome (XXY)
21
Q
CATCH22
A
22q11 deletion aberrant development 3rd and 4th branchial pouches Cleft palate Abnormal facies Thymic aplasia--> T cell deficiency Cardiac defects HypoCa from PTH aplasia
22
Q
digeorge
A
thymic
parathyroid and cardiac defects
23
Q
Vitamin B
That real nice pretty pink beautiful fucking cunt
A
thiamine B1 Riboflavin B2 niacin B3 NAD+ pantothenic acid B5 CoA pyridoxine B6 biotin B7 folate B9 cobalamin B12
24
Q
B complex deficiencies
A
dermatitis, glossitis and diarrhea
25
enzymes that need thiamine
Transketolase (HMP shunt)
Pyruvate dehydrogenase (link glycolysis to TCA)
alpha ketoglutarate dehydrogenase (TCA)
branched-chain ketoacid dehydrogenase
26
dry beri beri
polyneuritis, symmetrical mm wasting
27
wet beri beri
high output cardiac failure (dilated CM), edema
28
riboflavin
FAD and FMN
29
deficiency of riboflavin
cheilosis and corneal vascularization
30
niacin deficiency
diarrhea
dementia
dermatitis (C3/C4 dermatone circumferential) and hyperpigmentation of sun exposed limbs
31
side effects of too much niacin
flushing
hyperglycemia
hyperuricemia
32
deficiency vit B5
dermatitis, enteritis, alopecia, adrenal insufficiency
33
vit B6 needed for
making heme, niacin, histamine, NT and cysthathionine
34
deficiency B6
convulsions, hyperirritability, peripheral neuropathy, sideroblastic anemias from impaired hemoglobin synthesis and iron excess
35
deficiency in biotin
dermatitis, alopecia, enteritis
| excessive intake eff whites
36
where is foalte absorbed
jejunum
37
deficiency in folate
megaloblastic anemia
glossitis
inc homocysteine
38
what drugs can cause folate deficiency
phenytoin, sulfonamides, MTX
39
Dx for pernicious anemia
Ab to IF
40
deficiency in cobalamin
megaloblastic anemia
paresthesias and subacute combined degeneration ( dorsal columns, lateral corticospinal tracts and spinocerebellar tracts)
inc homocysteine and methylmalonic acid levels
41
Tx methemoglobinemia
ascorbic acid Vit C
42
scurvy
swollen gums, bruising, petechiae, hemarthrosis, anemia, poor wound healing, perifolluclar and subperiosteal hemorrhages "corkscrew hair"
weakened immune response
43
too much Vit C
nausea, vomiting, diarrhea, fatigue, Ca oxalate nephrolithiasis
44
too much Vit D
hypercalcemia
hypercalciuria
loss appetite
stupor
45
tocopherol and tocotrienol
Vitamin E
46
what vitamin enhances anticoagulant effects warfarin
vit E
47
deficiency in vit E
hemolytic anemia, acanthocytosis, muscle weakness, posterior column and spinocerebellar tract demyelination
looks like B12 def without megaloblastic anemia
48
Vit K needed for
factors II VII IX X protein C and S
49
what happens in zinc deficiency
delayed wound healing, hypogonadism, dec adult hair, anosmia, scaly plaques on butt
50
kwashiorkor
swollen abdomen
| protein malnutrition
51
marasmus
total malnutrition
52
drug for methanol or ethylene glycol poisoning
fomepizole
| inhibits alcohol dehydrogenase
53
disulfiram
inhibits acetaldehyde dehydrogenase
| acetaldehyde accumulates
54
what pathways occur in both mitochondria and cytoplasm
heme synthesis
urea cycle
gluconeogenesis
55
what pathways occur in cytoplasm
```
glycolysis
fatty acid synthesis
HMP shunt
protein synthesis RER
steroid synthesis SER
cholesterol synthesis
```
56
rate limiting enzyme in glycolysis
PFK-1
57
rate limiting enzyme in gluconeogensis
Fructose 1,6 bisphosphatase
58
rate limiting in TCA
isocitrate dehydrogenase
59
rate limiting glycogenesis
glycogen synthase
60
rate limiting glycogenolysis
glycogen phosphorylase
61
rate limiting HMP shunt
G6PD
62
rate limiting de novo pyrimidine synthesis
carbamoyl phosphate synthetase II
63
rate limiting de novo pruine synthesis
PRPP
64
rate limit urea cycle
carbamoyl phosphate synthetase I
65
rate limit in fatty acid synthesis
Acetyl CoA carboxylase
66
rate limit in fatty acid oxidation
carnitine acyltransferase I
67
rate limit in ketogenesis
HMG-CoA synthase
68
rate limit in cholesterol synthesis
HMG-CoA reductase
