Biochemistry: DISEASES Flashcards
1
Q
secondary structure defect of Alzheimer’s?
A
b-pleated sheet
amyloid
2
Q
HBA1c cut off in pregnancy for diagnosis?
A
> 6.5%
3
Q
HBA1c goal for non-pregnant
A
7%
4
Q
diagnosis?
- cherry pink
- treatment: 100% oxygen
A
carboxyhemoglobin
5
Q
diagnosis?
- chocolate cyanosis
- O2 sat of 85%
- oxidized form of hgb has increased affinity to cyanide
- treatment: methylene blue
A
methemoglobin
6
Q
diagnosis?
- intrinsic defect of RBC
- mutation in ankyrin
- Jaundice, Anemia, Splenomegaly
- dx: osmotic fragility test
- tx: splenectomy
A
hereditary spherocytosis
7
Q
diagnosis?
- glu –> valine
- anemia, painful crises, tissue anoxia
- protective against malaria
A
sickle cell disease
8
Q
diagnosis?
- glu –> lysine
- mild hemolytic anemia
A
hemoglobin C disease
9
Q
diagnosis?
- accumulation of Hb Bart, Hb F and b-chain precipitation
- readily appears at birth
A
Alpha Thalassemia (Chromosome 16)
10
Q
diagnosis?
- accumulation of Hb Bart and a-chains
- appears at 6months
A
Beta Thalassemia (Chromosome 11)
11
Q
manifested as Cooley Anemia
A
Beta Thalassemia
12
Q
Collagen Defect? Ehler Danlos Syndrome
A
type 3
13
Q
Collagen Defect? Alport Syndrome
A
type 4
14
Q
Collagen Defect? osteogensis imperfecta
A
type 1
15
Q
Collagen Defect? epidermolysis bullosa
A
type 7
16
Q
diagnosis?
- copper deficiency
- kinky hair, growth retardation
A
menkes disease
17
Q
diagnosis?
- hyperextensibility of skin
- abnormal tissue fragility
- increased joint mobility
- intracranial aneurysms - most serious manifestation
A
ehlers-danlos syndrome
18
Q
diagnosis?
- hydroxylation of collagen
- vitamin C deficiency
A
scurvy
19
Q
diagnosis?
- brittle bone syndrome
A
osteogenesis imperfecta
20
Q
diagnosis?
- glomerular & cochlear BM manifestations:
HEMATURIA + HEARING LOSS
A
alport syndrome
21
Q
diagnosis?
- skin that breaks and with blisters after minor trauma
A
epidermolysis bullosa
22
Q
diagnosis?
- mutation in fibrillin gene; autosomal dominant
- aortic dilatation
- ectopia lentis (upward direction)
A
marfan syndrome
23
Q
diagnosis?
- associated with panacinar emphysema
A
a-1 antitrypsin deficiency
24
Q
diagnosis
- glucose 6 phosphatase deficiency
- hyperuricemia
A
von gierke disease
glycogen storage disease type 1a
25
liver phosphorylase deficiency
hers disease
| glycogen storage disease type 6
26
PFK deficiency
Tarui disease
| glycogen storage disease type 7
27
diagnosis?
- (a-glucosidase) lysosomal acid maltase deficiency
- muscle dystrophy
pompe disease
| glycogen storage disease type 2
28
debranching enzyme deficiency
cori disease
| glycogen storage disease type 3a
29
branching enzyme deficiency
andersen disease
| glycogen storage disease type 4
30
muscle phosphorylase deficiency
mc ardle syndrome
| glycogen storage disease type 5
31
diagnosis?
- most common disease producing enzyme abnormality in humans?
- decreased NADPH in PPP
- pathology: heinz bodies, bite cells
- precipitated by: sulfonamides, primaquine, chloramphenicol, fava beans
Glucose 6-phosphate dehydrogenase deficiency
32
diagnosis?
- deficiency in NADPH oxidase
- manifested with severe, persistent and chronic pyogenic infections
chronic granulomatous disease
33
diagnosis?
- most common inborn error of FA oxidation
- severe hypolgylcemia
- SIDS
- tx: avoid fasting
Medium-chain fatty acyl coa dehydrogenase
34
akee tree: toxin hypoglycin
JAMAICAN VOMITING SICKNESS
35
accumulation of phytanic acid
REFUSM DISEASE
36
diagnosis?
- cerebrohepatorenal syndrome
- inherited absence of peroxisomes
- very long chain FA
ZELLWEGER SYNDROME
37
very long chain FA accumulated in brain, adrenals & testes
- neurodegeneration, adrenocortical insufficiency, hypogandism
ADRENOLEUKODYSTROPHY
38
congenital adrenal hyperplasia - what specific deficiency?
| - hypotension, hypolgycemia, virilization
21 - a - hydroxylase deficiency
| - most common CAH (90%)
39
congenital adrenal hyperplasia - what specific deficiency?
| - low renin HYPERTENSION, hypoglycemia, virilization
11 - b1 - hydroxylase deficiency
40
diagnosis?
- low LDL, low HDL
- no increased risk of coronary artery disease
TYPE 1
familial lipoprotein lipase deficiency
- lipoprotein lipase or apo C2
41
diagnosis?
- high VLDL, cholesterol
- associated with type 2 dm, obesity, alcoholism
TYPE 4
familial hypertriacylglycerolemia
- OVERPRODUCTION OF LDL
42
Type 3 hyperlipoproteinemia defect?
abnormal apo E
| - familial dysbetalipoproteinemia
43
Type 2a hyperlipoproteinemia defect?
defective LDL receptor
| - familial hypercholesterolemia
44
most common hereditary hyperammonemia
ornithine transcarbomylase deficiency
| step2
45
most severe hereditary hyperammonemia
carabomyl phosphate synthetase-1 deficiency
| step1
46
accumulation of homogentisic acid
alkaptonuria
| - ochronosis (CT is dark)
47
defective melanin synthesis
albinism
48
defect in methionine degradation
homocystinuria
- high plasma and urinary levels of homocysteine and methionine
- low levels of cysteine
- ectopia lentis (downward)
- faulty bone development and osteoporosis
**MI + stroke in child and young adults
49
defect of renal tubular AA transport in PCT of kidneys
```
Cystinuria
C - cystine
O - ornithine
L - lysine
A - arginine
```
50
methylmalonyl coa mutase deficiency affects what AA?
```
VIT Meth
valine
isoleucine
threonine
methionine
```
51
MSUD AA?
LIV
Leucine
Isoleucine
Valine
52
LEAD POISONING inactivates what enzymes?
ALA dehydratase & ferrochelatase
53
HGPRT enzyme deficiency
```
Lesch-Nehan Syndrome
H - HYPERURICEMIA
G - GOUT
P - PISSED OFF (SELF MUTILATION)
R - RETARDATION
T - DYS(T)ONIA
```
54
adenosine deaminase deficiency
SCID
55
diagnosis?
- a- L iduronidase deficiency
- AR
- coarse facial features, mental retardation
- corneal clouding
HURLER SYNDROME
| Mucopolysaccharidoses - 1
56
diagnosis?
- iduronate sulfatase
- X-linked
- coarse facial features, mental retardation
- NO corneal clouding
HUNTER SYNDROME
| Mucopolysaccharidoses - 2
57
Mucopolysaccharidose disorder that presents with HYPERACTIVITY
SANFILIPPO SYNDROME
| Mucopolysaccharidoses - 3
58
Mucopolysaccharidose disorder that presents with NO CNS INVOLVEMENT
MORQUIO SYNDROME
| Mucopolysaccharidoses - 4
59
7 GLYCOGEN STORAGE DISEASE?
```
Very Pumped CORe AND Muscle Herr Tar
1 - VON GIERKE
2 - POMPE
3 - CORI
4 - ANDERSEN
5 - MC ARDLE
6 - HERS
7 - TARUI
```
60
diagnosis?
(enzyme deficiency + lipid accumulating)
HEXOSAMINIDASE A2 + GM2 GANGLIOSIDE
TAY SACHS DISEASE
- cherry red spot on macula BUT NO HEPATOMEGALY
- seen in ashkenazi jews
- patho: lysosomes with onion skin
(Mnemonic: TAY - HEX - GANG)
61
diagnosis?
(enzyme deficiency + lipid accumulating)
CERAMIDASE + CERAMIDE
FARBER DISEASE
- lipids in joints
- hoarse cry
(Mnemonic: FARBER - CERAMIDE)
62
diagnosis?
(enzyme deficiency + lipid accumulating)
B-GALACTOSIDASE + GALACTOSYLCERAMIDE
KRABBE DISEASE
| Mnemonic: GRABE, GAL - GAL
63
diagnosis?
(enzyme deficiency + lipid accumulating)
SPHINGOMYELINASE + SPHINGOMYELINE
NIEMANN PICK DISEASE
- cherry red spot on macula
- patho: FOAM CELLS
(Mnemonic: Niemann Sphing)
64
diagnosis?
(enzyme deficiency + lipid accumulating)
B-GLUCOSIDASE + GLUCOSYLCERAMIDE
GAUCHER DISEASE
- most common lysosomal storage disease
- patho: CRUMPLED TISSUE PAPER MACROPHAGES
(Mnemonic: GGGluc)
65
diagnosis?
(enzyme deficiency + lipid accumulating)
A-GALACTOSIDASE + GLOBOTRIASYLCERAMIDE
FABRY DISEASE
- reddish purple skin rash
- kidney & heart failure
- XL recessive
(Mnemonic: Fab Gal Globe)
66
diagnosis?
(enzyme deficiency + lipid accumulating)
ARYLSULFATASE A + 3 SULFOGALAVTOSYLCERAMIDE
METACHROMATIC LEUKODYSTROPHY (MLD)
- progressive paralysis, cognitive demyelination
- patho: SULFATIDES
(Mnemonic: MLD - Sulfa)
67
5 mucopolysaccharidoses
H-H-S-M-S
(hot-hot sex, more sex!)
```
(hot-hot sex, more sex!)
MPS1 - Hurler
MPS2 - Hunter
MPS3 - Sanfilippo
MPS4 - morquio
MPS5 - Sly
```
