Biochemical Disorders Flashcards
(100 cards)
1
Q
Deficiency in NADPH oxidase
Results in pyogenic infections since there is no respiratory burst
A
Chronic granulomatous disease
2
Q
Insulin deficiency
Increased glucose level
Glucosuria
Increased ketogenesis
A
Diabetes Mellitus
3
Q
Increased urine galactose
Autosomal recessive
A
Galactokinase deficiency
4
Q
Deficiency in cystathionine synthetase
A
Homocysteinuria
Cannot methylate homocysteine into methionine
5
Q
Treatment for homocysteinuria
A
Vitamin B6 (pyridoxine) and cysteine
6
Q
Neonatal screening test for phenylketonuria
A
Guthric test
May show false negative if done at birth
7
Q
Deficient phynylalanine hydroxylase
A
Phenylketonuria
8
Q
Management for phenylketinuria
A
Eliminate phenylalanine from diet
Supplement with tyrosine
9
Q
Amino acid disorder
Darkened urine when standing
A
Alkaptonuria
10
Q
Ezyme deficient in alkaptonuria
A
Homogentisate oxidase
11
Q
Urea cycle disorder
Hyperammonemia
A
CPS deficiency
Carbamoyl phosyphate synthetase deficiency
12
Q
Amino acid disorder
Urea cycle disorder
Hyperammonemia
Orotic aciduria
A
Ornithine transcarbamoylase deficiency
13
Q
Amino acid disorder
Deficient argininisuccinate synthetase
A
Citrullinemia
Increased citrulline level
14
Q
Deficient argininosuccinase
Excretion of argininosuccinate in urine
A
Argininemia
15
Q
Amino acid disorder
Sweet odor of urine
A
MSUD
16
Q
Enzyme deficiency in MSUD
A
Keto-acid (branched chain) dehydrogenase
17
Q
Amino acid disorder
Increased isoleucine, leucine, valine in urine
A
MSUD
these are brached chain AA
Absent ketoacid (branched chain) dehydrogenase in MSUD
18
Q
Management for MSUD
A
Diet low in brached chain ketoacids
19
Q
Most glycogen storage diseases are autosomal recessive except
A
Phosphorylase b kinase deficincy
20
Q
Glycogen storage disease
Hepatomegaly
Deficient glucose 6 phosphatase
A
Von Gierke’s Disease
Aka Type I GSD
21
Q
Type I GSD
A
Von Gierke’s Disease
22
Q
Type II GSD
A
Pompe’s Disease
23
Q
2 enzymes deficient in Pompes Dse
A
Alpha 1,4-glucosidase
Lysosomal acid maltase (debranching enzyme)
24
Q
Debranching enzyme deficient in Pompes Dse
A
Lysosomal acid maltase
Also decreased in alpha 1,4-glucosidase
25
GSD
Cardiomegaly
Restrictive cardiomyopathy that occurs as the heart stores glycogen
Juvenile onset: hypotonia, death from heart failure
Adult onset: muscle dystrophy
Pompes Disease (Type II GSD)
26
GSD
| Enzyme deificiency in Com’s disease
Amylo 1,6-glucosidase, a debranching enzyme
27
GSD
| Effects limit dextrin conversion to glucose
```
Cori dse (Type IIIa)
Deficient amylo 1,6 glucosidase
```
28
Type V GSD
McArdle’s diasease
| Deficiency in muscle phosphorylase
29
Enzyme deficiency in McArdle’ s disease
Muscle phosphorylase
| Sx cramps in the muscle
30
GSD
Weakness and cramps in muscle
Increased glycogen
McArdle aka Type V GSD
| Def in muscle phosphorylase
31
GSD
| Deficiency in liver phosphorylase
HERS dse
| Increased in glycogen like McArdle
32
GSD
| Increased glycogen due to inability to activate to phosphorylase a
Phosphorylase b kinase deficinecy
33
Lipid disx
Increased level of cholesterol due to mutated LDL receptor
Reduced binding of LDL
Familial hypercholesterolemia
34
Lipid disx
| Increased chylomicron TAG
Familial lipoprotein lipase deficiency
35
Lipid disx
| Deficiency of lecithin cholesterol acyltransferase
Familial LCAT deficiency
36
Lipid dsx
| Defective HDL synthesis
Tangier’s dse
37
Lipid disx
| Elevated cholesterol in tissue and decreased plasma HDL
Tangier’s dse
38
Lipid disx
| Deficient Apo E 3
Familial dysbetalipoprotenemia
39
Lipid disx
| Defective synthesis of Apo B lipid complex
Abetalipoproteinemia
40
Lsysosomal storage disease-Mucopolysaccharidoses
| X-linked deficiency of iduronosulfate sulfatase
Hunter’s Syndrome
41
Lysosomal Storage Disease-mucopolysaccharidoses
Mental and physical retardation
NO corneal clouding
Hunters Syndrome
| Increased level of dermatan and heparan sulfate
42
Lysosomal Storage Disease-mucopolysaccharidosis
Increased level of dermatan and heparan sulfate
Corneal clouding, mental and physical retardation
Early death
Hurler’s syndrome
| Deficiency of alpha L idurodinase
43
Lysosomal storage disease-mucopolysaccharidosis
Inc heparan and dermatan sulfate
Deficiency of alpha L idurodinase
Early death
Hurler’s syndrome
44
```
Lysosomal storage disease-mucopolysaccharidosis
Coneal clouding
Joint degeneration
Heart disease
NO retardation
NORMAL life expectancy
```
Schele’s syndrome
45
Lysosomal storage diseases with defricency in alpha L iduronidase
Hurler’s, Schele’s
46
Lysosomal Storage Disease- Mucopolysaccharidosis
Increased heparan sulfate
Severe mental retardation
Type III mucopolysaccharidosis
Sanfilippo’s syndrome
47
Type III Mucopolysaccharidosis
Sanfilippo’s syndrome
48
Enzyme deficiency in Sanfilippo’s Syndrome Type A
A: N-sulfatase
B: N-acetylglucosaminidase
C: N-acetylcoA, alphaglucosamine acetyletransferase
D: N-acetyl alpha D glucosamine 6 sulfatase
49
Enzyme def in Sanfilippo Syndrome Type B
A: N-sulfatase
B: N-acetylglucosaminidase
C: N-acetylcoA, alphaglucosamine acetyletransferase
D: N-acetyl alpha D glucosamine 6 sulfatase
50
Enzyme def in Sanfilippo Type C
A: N-sulfatase
B: N-acetylglucosaminidase
C: N-acetylcoA, alphaglucosamine acetyletransferase
D: N-acetyl alpha D glucosamine 6 sulfatase
51
Enzyme def in San Filippo Type D
A: N-sulfatase
B: N-acetylglucosaminidase
C: N-acetylcoA, alphaglucosamine acetyletransferase
D: N-acetyl alpha D glucosamine 6 sulfatase
52
Sphingolipidosis
| Defective beta gangliosidase A
GM1 gangliosidosis
53
Sphingolipidosis
| Deficiency of hexosaminidase A
Tay Sachs disease
54
Sphingolipidosis
| Increased GM2 gangliosides
Tay Sachs disease
55
```
Sphingolipidosis
Associated with Ashkenazi (Eastern European), Jews
Macular cherry red spot
Retardation
Early death
```
Tay Sachs disease
56
Sphingolipidosis
Deficiency of glucocerebrosidase
Increased glucocerebrosides
Gaucher’s dse
57
Sphingolipidosis
Deficiency of sphingomyelinase
Mental retardation
Early death
Niemann-Pick’s Dse
58
Enzyme def in Gaucher’s dse
Glucocerebroside
59
Enzyme deficiency in Niemann-Pick’s dse
Sphingomyelinase
60
Sphingolipidosis
| Def of a-galactocerebrosidase A
Fabry’s Dse
61
Sphingolipidosis
| Increase ceramide trihexoside
Fabry’s dse
| Deficiency of a-galactocerebrosidase
62
This is the only sex linked sulfatidosis
Fabry’s disease
63
Nitrogen base disorder
Deficiency of HGPRT
But has xanthine oxidase
Lesch Nyhan Syndrome
64
```
Nitrogen Base discorder
Associated with Gout
Increased serum Urate
Increased PRPP
Icreased hypoxanthine
Self destruction
Mental retardation
```
Lesch Nyhan
| Due to dec HGPRT
65
Analogue of xanthine, used in the treatment of gout
Inhibits xanthine oxidase
Decreased hypoxanthine conversion to urate
Does not resolce neurologic problems
Allopurinol
| Used in Lesch Nyhan
66
Enzyme involved in degradation of purines
| Precursor of guanine
Xanthine oxidase
Hypoxanthine—> xanthine —> uric acid
67
Nitrogen base disx
| Leads to severe combinced immunodeficiency disorder
Adenosine deaminase deficiency
68
The first gene transplanted into human cell DNA to develop tha immune system
Adenosine deaminase
69
Deficiency of this enzyme eill shut off deoxyribose productionand decreases immune system
Adenosine deaminase
| Adenosine is converted to inosine (purine degradation)
70
Nitrigen base disorder
| Deficiency of orotate phosphoribosyltransferase
Orotic aciduria
71
Nitrogen base disx
| Megaloblastic anemia
Orotic aciduria
72
Nitrogen base disx
| Deficiency of UV endonuclease
Xeroderma pigmentosum
73
Nitrogen base disorder
| Loss of excision repair to remove thymine dimers (created by UV radiation) forming dimers in DNA
Xeroderma pigmentosum
74
3 enzymes involved in repair of dimers
Exonuclease
DNA polymerase I
DNA ligase
75
Enzyme involved in the repair of thymine dimers
DNA repair and synthesis
Formation of phosphodiester bonds between molecules
Ligase
76
Hepatolenticular degeneration
| Dermatitis
Wilsons dse
77
Increased serum copper
Wilsons dse
78
Deficiency of ceruloplasmin
Wilsons dse
79
Enzyme def in acute intermittent porphyria
Porphobilinogen deaminase
80
Dse associated with increased delta aminolevulonic acid (d-ALA)
Acute intermittent porphyria
81
Defective formation of bilirubin glucuronide
Crigler-Najjar syndrome
82
Deficiency of hepatic bilirubin UDP glucoronyl transferase
Crigler Najjar Syndrome
83
Non-hemolytic jaundice,
Hyperbilirubinemia
Irreversible brain damage
Defective formation of bilirubin diglucoronide
Crigler Najjar syndrome
84
Excessive iron storage
| Frequent blood transfusion-related
Hemosiderosis
85
Hemoglobinopathy
| Glutamate—>Valine (less soluble) at position 6 on beta chain om hemoglobin
Sickle cell anemia
86
Abnormal hemoglobin S
Sickle cell disease
| Sickle cell trait- Hgb S and A
87
Abnormal quantity of alpha and beta hemoglobin chains
| Normal function of chains
Thalassemia
88
Alpha or Beta thalassemia?
1. May produce hgb H
2. Gene deletion, impaired processing of mRNA, premature chain termination
1 alpha
| 2 beta
89
Connective tissue disorder
Elastic skin loose joints
Collagen defects
Ehlers Danlos
90
Decreased lysyl oxidase or lysyl hydroxylase
Ehlers Danlos Syndrome
91
Deficiency of Type I collagen formation
| Elastin defect
Marfan
92
Tall stature
Arachnodactyly
Weak arteries
Aortic aneurysm
Marfan
93
Decreased collagen synthesis
Osteogenesis imperfecta
94
Brittle bone syndrome
Osteogenesis imperfecta
95
Transport defect of tryptophan in intestinal and renal systems
Hartnup disease
96
Defective cystine, lysine, arginine, ornithine transport
Cystinuria
| Cystine crystals and stone formation
97
X linked recessive
Factor 9 def
Hemophilia B
Christmas dse
98
Massive hemorrhage after trauma or operation
Normal bleeding time
Prolonged coagulation time
Factor 8 def, hemophilia a, x-linked recesive aka classic hemophilia
Tx: factor 8 concentrate
99
Deficiency of branching enzyme
Increase polysaccharide with few branch points
Death from heart or liver failure before age 5
Type IV
| Andersen dse
100
Deficiency of branching enzyme
Increase polysaccharide with few branch points
Death from heart or liver failure before age 5
Type IV
| Andersen dse
