Biochem - clinical correlates Flashcards
(109 cards)
1
Q
Von Gierke Disease
A
Glucose 6 phosphatase deficiency
2
Q
Pompe Disease
A
Lysosomal acid maltase deficiency
3
Q
Cori Disease
A
Debranching enzyme deficiency
4
Q
Andersen Disease
A
Branching enzyme deficiency
5
Q
McArdle Syndrome
A
Muscle phosphorylase deficiency
6
Q
Hers Disease
A
Liver Phosphorylase deficiency
7
Q
Fasting hypoglycemia
Hepatomegaly in infancy
Increase in dextrin
Muscle weakness
A
Cori Disease
8
Q
Poor exercise tolerance
Muscle cramps
Myoglobinuria but no lactic acidosis
Increase in muscle glycogen
A
McArdle Syndrome
9
Q
Hepatomegaly
Mild hypoglycemia
A
Hers Disease
10
Q
Hypotonia, death from heart failure by age 2
A
Pompe Disease (Juvenile)
11
Q
Muscle dystrophy
A
Pompe Disease (Adult)
12
Q
Fasting hypoglycemia Lactic acidosis Ketosis Hyperlipemia Increase glycogen in liver and renal tubule cells
A
Von Gierke Disease
13
Q
Cataracts in early childhood
A
Galacotikinase deficiency
14
Q
Premature ovarian failure in females Mental retardation Liver damage, Jaundice Diarrhea, Vomitting Galactosemia, Galactosuria
A
Classic Galactosemia (Galactose-1-phosphate-uridyl transferase deficiency)
15
Q
Flatulence and diarrhea after ingestion of dairy products
A
Lactose intolerance (Lactase deficiency)
16
Q
Intolerance of ingested sucrose
A
Sucrase-isomaltase complex deficiency
17
Q
Increased xylulose in the urine due to deficiency of xylulose reductase
A
Essential Pentosuria (Xylulose reductase deficiency)
18
Q
Hemolytic anemia after oxidative stress
A
G6PD deficiency
19
Q
Precipitating factors of G6PD
A
Infection
Drugs
Fava beans
20
Q
Histologic findings for G6PD
A
Heinz bodies
Bite cells
21
Q
Severe persistent and chronic pyogenic infections caused by catalase positive bacteria
A
Chronic Granulomatous Disease
22
Q
Deficiency in CGD
A
NADPH oxidase
23
Q
Low LDL, Low HDL
Xanthomas
Recurrent pancreatitis
A
Familial Lipoprotein Lipase Deficiency
Lipoprotein lipase or Apo C-II
24
Q
High LDL and cholesterol
Increased risk for atherosclerosis and coronary disease
A
Familial Hypercholesterolemia
Defective LDL receptor
25
Hypercholesterolemia
Xanthomas
Atherosclerosis
Familial Dysbetalipoproteinemia
| Abnormal apo E
26
High VLDL, cholesterol
Subnormal LDL and HDL
Associated with CAD, T2DM, Obesity and alcoholism
Familial Hypertriacylglycerolemia
| Overproduction of VLDL
27
Atherosclerosis leading to CAD
| Thrombosis due to inhibition of fibrinolysis
Familial Lipoprotein excess
| Elevated Lp (a) which is nearly identical to LDL
28
Beneficial to health and longevity
Familial hyperalpha lipoproteinemia
| High HDL
29
Low triacylglycerol, accumulation of triacylglycerol in liver and intestines
Treated with large doses of fat-soluble vitamins, particularly vitamin E
Abetalipo proteinemia
(Defect in the loading of apo B with lipid)
(No chylomicrons or VLDL)
30
High triacylglycerol due to inactive LPL
Low LDL
Atherosclerosis in elderly
Familial alpha-lipoprotein deficiency
* Tangier disease
* Fish eye disease
* Apo A-1 deficiencies
(Low or near absence of HDL)
31
```
Tremors, slurring of speech, vomiting, BOV
Cerebral Edema
Elevated blood glutamine
Decreased BUN
Respiratory Alkalosis
```
Hyperammonemia
32
Severe mental retardation
Fair skin and eczema
Musty body odor
Phenylketonuria
| Phenylalanine
33
Connective tissue is dark (ochronosis)
Debilitating arthralgias
Urine turns dark on standing
Osler's sign
Alkaptonuria
| Tyrosine
34
Absence of pigment from hair, eyes, skin
| Increased risk for skin cancer
Albinism
| Tyrosine
35
```
Ectopia lentis (displaced downward)
Faulty bone development
Mental retardation
Tendency to form thrombi
MI
```
Homocystinuria
| Methionine
36
Kindey stones -> Staghorn calculi
Cystinuria
| COLA - Cystine, Ornithine, Lysine, Arginine
37
Ssizure, encephalopathy, stroke at the age of 1 month to 1 year
Methylmalonyl CoA Mutase Deficiency
| Isoleucine, Valine, Methinone, Threonine
38
Characteristic odor imparted to the urine
Ketoacidosis
Vomiting
Mentao retardation
Maple Syrup Urine Disease
39
Lesh-Nyhan Syndrome
HGRPT deficiency
40
Lymphocytopenia
| Death before age 2
Severe Combined Immunodeficiency
41
Orotic aciduria
Orotidine phosphate decarboxylase deficiency
42
Gout, self mutilation, mental retardation
Lesh-Nyhan Syndrome
43
Severe Combined Immunodeficiency
Adenosine deaminase
44
Beta hydroxybutyric acidrua
Dihydropyrimidine dehydrogenase deficiency
45
Combined uraciluria-thyminuria
Beta hydroxybutyric acidrua
46
Poor growth, megaloblastic anemia, Orotate in the urine
Orotic aciduria
47
Xeroderma Pigmentosa
| DNA lesion?
Pyrimidine dimers
48
Lynch Syndrome
| DNA lesion?
Mismatched Strand
49
MUTYH associated polyposis
| DNA lesion?
Base alterations
50
SCID
| DNA lesion?
Double Strand breaks
51
Breast cancer susceptibility 1 and 2
| DNA lesion?
Double Strand breaks
52
Contains peptide toxin which inhibits RNA polymerase II
Amanita Mushroom
53
Inactivates the eukaryotic elongation factor EF-2, preventing translocation
Diphtheria Toxin
54
Binds to 30s subunit and interferes with initiation
Streptomyocin and aminoglycosides
55
Prevents binding of aminoacyl-tRNA to the A site
Tetracycline
56
Binds to the DNA template and interferes with the movement of RNA polymerase during transcription
Dactinomycin
57
Binds to the beta subunit of bacterial DNA-dependent RNA polymerase
Rifampicin
58
Inhibits prokaryotic peptidyltransferase
Chloramphenicol
59
Binds to the 50s subunit and inhibits translocation
Clindamycin and macrolides
60
Inhibits dihydrofolate reductase
Methotrexate
61
Metabolically converted to 5-FdUMP
5-fluorouracil
62
Inhibits Xanthine Oxidase
Allopurinol
63
Inhibits dihydropteroate synthase
Sulfonamides
64
Selectively inhibits bacterial dihydrofolate reductase
Trimethoprim
65
Reversible inhibitor of IMP dehydrogenase
Mycophenolate
66
What mutation happens in Tay-Sachs?
Splice donor/acceptor
67
What mutation happens in Huntington Disease?
Triple Repeat Expansion
68
What mutation happens in Myotonic Dystrophy?
Triple Repeat Expansion
69
What mutation happens in Gaucher?
Splice donor/acceptor
70
What mutation happens in Fragile X Syndrome?
Triple Repeat Expansion
71
What mutation happens in beta thalassemia?
Splice donor/acceptor
72
Peripheral neuropathy and ataxia
Retinitis pigmentosa
Abnormalities of skin and bone
Refsum Disease
73
Liver dysfunction with jaundice
Marker mental retardation, weakness, hypotonia
Craniofacial dysmorphism
Early death
Zellweger Syndrome
74
Jamaican Vomiting Sickness
Toxin hypoglycin
| - inactivate medium and short chain acyl CoA dehydrogenase
75
Adrenoleukodystrophy
Inability to transport VLCFAs across the peroxisomal membrane
76
Neurodegeneration (initial apathy and behavioral change, followed by visual loss, spasticity and ataxia)
Adrenocortical insuffiency
Hypogonadism
Adrenoleukodystrophy
77
Zellweger Syndrome
Absence of peroxisomes in all tissues
78
Accumulation of VLCFAs in the brain, adrenals and testes
Adrenoleukodystrophy
79
Refsum Disease
Deficiency of Phytanoyl-CoA-hydroxylase
80
Accumulation of Phytanic acid
Refsum Disease
81
Accumulation of very long chain, saturated, unbranched fatty acids in liver and CNS
Zellweger Syndrome
82
Reduced fatty acid oxidation -> sever hypoglycemia, coma and even death
(Affects liver)
Carnitine-Palmitoyl Transferase I deficiency
83
Affects cardiac and skeletal muscle
| Cardiomyopathy, muscle weakness with myoglobinemia after prolonged exercise
Carnitine-Palmitoyl Transferase II deficiency
84
Can manifest as Sudden Infant Death Syndrome
Medium chain fatty acyl CoA dehydrogenase deficiency
85
```
Mental retardation
Coarse facial features
Hepatosplenomegaly
Corneal clouding
Death in childhood
```
Hurler Syndrome
86
Mental retardation
Coarse facial features
NO corneal clouding
Hunter Syndrome
87
GAGs affected in Hunter Syndrome and Hurler Syndrome
Dermatan Sulfate
| Heparan Sulfate
88
Skeletal dysplasia and short stature
Odontoid hypoplasia
Corneal clouding
No CNS involvement
Morquio Syndrome
89
GAGs affected in Sly Syndrome
Dermatan Sulfate
Heparan Sulfate
Chondroitin Sulfate
90
Mental retardation
| Hyperactivity
Sanfilippo Syndrome
91
GAGs affected in Sanfilippo Syndrome
Heparan Sulfate
92
Mental metardation
Corneal clouding
Hepatosplenomegaly
Skeletal dysplasia and short stature
Sanfilippo Syndrome
93
Mental retardation
Cherry red spot on macula
Hepatosplenomegaly
Niemann-Pick Disease
94
Lysosomes with onion skin
Tay-Sachs disease
95
Mental retardation
Cherry red spot on macula
NO hepatosplenomegaly
Tay-Sachs disease
96
Tay-Sachs disease
Hexosaminidase A deficiency
97
Foam cells
Niemann-Pick Disease
98
____ cells which are macrophages that resemble crumpled tissue paper
Gaucher disease
99
Gaucher disease
Beta glucosidase
100
Niemann-Pick disease
Sphingomyelinase
101
Reddish purple skin rash
| Kidney and heart failure
Fabry disease
102
Most common lysosomal storage disease
Gaucher disease
103
Lipids accumulate in joints with tissue granulomas and subcutaneous nodules
Hoarse cry
Mental retardation
Early Death
Farber disease
104
Fabry disease
Alpha galactosidase
105
Farber disease
Ceramidase
106
Krabbe disease
Beta galactosidase
107
Loss of myelin leading to muscle weakness, feeding difficulties, vision loss, seizures
Krabbe disease
108
Sulfatides from granules that are metachromatic, nerves stain yellowish brown
Metachromatic leukodystrophy
109
Metachromatic leukodystrohpy
Arylsulfatase A
