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biochemistry Flashcards

(66 cards)

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1
Q

ADPKD

A

AD
85% of cases have mutation in PKD1 - chr 16
rest PKD2 - chr 4

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2
Q

familial adenomatous polyposis

A

AD

mutation on chr. 5q (APC gene)

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3
Q

familial hypercholesterolemia

A

AD
elevated LDL due to defective or absent LDL receptor
results in severe atherosclerotic disease early in life, corenal arcus, tendon xanthomas (esp. achilles tendon)

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4
Q

hereditary hemorrhagic telangiectasia (aka Osler-Weber-Rendu syndrome)

A 
AD
branching skin lesions (telangiectasias
recurrent epistaxis
skin discolorations
AVMs
GI bleeding
hematuria
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5
Q

Hereditary spherocytosis

A

AD
spectrin or ankyrin
hemolytic anemia

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6
Q

huntington disease

A

AD

chr. 4

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7
Q

Li-Fraumeni syndrome

A

AD
abnormalities in TP53 => multiple malignancies at an early age
esp. sarcoma, breast, leukemia, adrenal gland

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8
Q

Marfan

A

AD
FBNI gene mutation on chr. 15 => defective fibrin = scaffold for elastin
affects skeleton, heart and eyes

tall with long extremities
pectus excavatum
hypermobile joints
long tapering fingers and toes
cystic medial necrosis of aorta
floppy mitral valve
subluxation of lenses, typically upward and temporally
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9
Q

MEN

A

AD
MEN1 = MEN1 gene
MEN2 = RET gene

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10
Q

neurofibromatosis type 1 (aka von Recklinghausen disease)

A 
AD
chr 17 NF1 gene
cafe au lait spots
cutaneous neurofibromas
optic gliomas
pheo
lisch nodules (pigmented iris hamartomas)
100% penetrance, variable expression
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11
Q

neurofibromatosis type 2

A 
AD
NF2 on chr. 22
bilateral aucoustic schwannomas 
juvenile cataracts
meningiomas
ependymomas
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12
Q

tuberous sclerosis

A

AD
numerous benign hamartomas
incomplete penetrance
variable expression

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13
Q

von Hippel-Lindau disease

A

AD

deletion of VHL gene on chr. 3p

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14
Q

albinism

A

AR

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15
Q

cystic fibrosis

A

AR

CFTR on chr. 7 - usually Phe508

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16
Q

gylcogen storage diseases

A

AR

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17
Q

hemochromatosis

A

AR

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18
Q

Kartagener syndrome

A

AR

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19
Q

mucopolysaccharidoses

A

AR

except hunter syndrome

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20
Q

phenylketonuria

A

AR

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21
Q

sickle cell anemia

A

AR

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22
Q

sphigolipidoses

A

AR

except Fabry disease

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23
Q

thalassemias

A

AR

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24
Q

Wilson disease

A

AR

chr. 13

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25
Bruton agammaglobulinemia
XR
26
Wiskott-Aldrich syndrome
XR
27
Fabry disease
XR
28
G6PD
XR
29
Ocular albinism
XR
30
Lesch-Nyhan
XR
31
Duchenne (and Becker) muscular dystrophies
XR
32
Hunter Syndrome
XR
33
Hemophilia A and B
XR
34
Ornithine transcarbamylase deficiency
XR
35
renal cell carcinoma
chr. 3
36
cri-du-chat syndrome
chr. 5
37
Williams syndrome
chr. 7
38
Freidrich ataxia
chr. 9
39
Wilms tumor
chr. 11
40
Patau syndrome
chr. 13
41
Prader-Willi
chr. 15
42
Angelman
chr. 15
43
ADPKD (PKD1)
chr. 16
44
Edwards syndrome
chr. 18
45
DiGeorge Syndrome
chr. 22 22q11
46
Kleinfelter syndrome
XXY
47
glycolysis RLE
phosphofructokinase-1 (PFK-1) + = AMP, fructose-2,6-bisphosphate - = ATP, citrate
48
gluconeogenesis RLE
fructose-1,6-bisphospatase + = ATP, acetyl-CoA - = fructose-2,6-bisphospate
49
TCA cycle RLE
isocitrate dehydrogenase + = ADP - = ATP, NADH
50
glycogenesis RLE
glycogen synthase + = glucose-6-phosphate, insulin, cortisol - = epinephrine, glucagon
51
glycogenolysis RLE
glycogen phosphorylase + = epinephrine, glucagon, AMP - = glucose-6-phosphate, insulin, ATP
52
HMP shunt RLE
glucose-6-phosphate dehydrogenase (G6PD) + = NADP+ - = NADPH
53
De novo pyrimidine synthesis RLE
carbamoyl phosphate synthetase II + = ATP - = UTP
54
de novo purine synthesis RLE
glutamine-phosphoribosylpurophosphate transferase (PRPP) | - = AMP, inosine monophosphate (IMP), GMP
55
urea cycle RLE
carbamoyl phosphate synthetase I | + = N-acetylglutamate
56
fatty acid synthesis RLE
acetyl-CoA carboxylase (ACC) + = insulin, citrate - = glucagon, palmitoyl-CoA
57
Fatty acid oxidation RLE
carnitine acyltransferase I | - = malonyl-CoA
58
ketogenesis RLE
HMG-CoA synthase
59
cholesterol synthesis RLE
HMG-CoA reductase + = insulin, thyroxine - = glucagon, cholesterol
60
Atp carries
Phosphoryl groups
61
Nadh, nadph, and fadh2 carry
Electrons
62
Coa and lipoamide carry
Acyl groups
63
Biotin carries
Co2
64
Tetrahydrofolates carry
1-carbon groups
65
S-adenosylmethionine (SAM) carries
CH3 groups
66
TPP carries
Aldehydes

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