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Biochemistry by mgcMD > Biochemical Disorders > Flashcards

Biochemical Disorders Flashcards

1
Q

Deficiency in NADPH oxidase

Results in pyogenic infections since there is no respiratory burst

A

Chronic granulomatous disease

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2
Q

Insulin deficiency
Increased glucose level
Glucosuria
Increased ketogenesis

A

Diabetes Mellitus

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3
Q

Increased urine galactose

Autosomal recessive

A

Galactokinase deficiency

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4
Q

Deficiency in cystathionine synthetase

A

Homocysteinuria

Cannot methylate homocysteine into methionine

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5
Q

Treatment for homocysteinuria

A

Vitamin B6 (pyridoxine) and cysteine

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6
Q

Neonatal screening test for phenylketonuria

A

Guthric test

May show false negative if done at birth

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7
Q

Deficient phynylalanine hydroxylase

A

Phenylketonuria

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8
Q

Management for phenylketinuria

A

Eliminate phenylalanine from diet

Supplement with tyrosine

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9
Q

Amino acid disorder

Darkened urine when standing

A

Alkaptonuria

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10
Q

Ezyme deficient in alkaptonuria

A

Homogentisate oxidase

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11
Q

Urea cycle disorder

Hyperammonemia

A

CPS deficiency

Carbamoyl phosyphate synthetase deficiency

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12
Q

Amino acid disorder
Urea cycle disorder
Hyperammonemia
Orotic aciduria

A

Ornithine transcarbamoylase deficiency

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13
Q

Amino acid disorder

Deficient argininisuccinate synthetase

A

Citrullinemia

Increased citrulline level

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14
Q

Deficient argininosuccinase

Excretion of argininosuccinate in urine

A

Argininemia

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15
Q

Amino acid disorder

Sweet odor of urine

A

MSUD

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16
Q

Enzyme deficiency in MSUD

A

Keto-acid (branched chain) dehydrogenase

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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

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18
Q

Management for MSUD

A

Diet low in brached chain ketoacids

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19
Q

Most glycogen storage diseases are autosomal recessive except

A

Phosphorylase b kinase deficincy

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20
Q

Glycogen storage disease
Hepatomegaly
Deficient glucose 6 phosphatase

A

Von Gierke’s Disease

Aka Type I GSD

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21
Q

Type I GSD

A

Von Gierke’s Disease

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22
Q

Type II GSD

A

Pompe’s Disease

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23
Q

2 enzymes deficient in Pompes Dse

A

Alpha 1,4-glucosidase

Lysosomal acid maltase (debranching enzyme)

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24
Q

Debranching enzyme deficient in Pompes Dse

A

Lysosomal acid maltase

Also decreased in alpha 1,4-glucosidase

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25
Q

GSD
Cardiomegaly
Restrictive cardiomyopathy that occurs as the heart stores glycogen

Juvenile onset: hypotonia, death from heart failure
Adult onset: muscle dystrophy

A

Pompes Disease (Type II GSD)

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26
Q

GSD

Enzyme deificiency in Com’s disease

A

Amylo 1,6-glucosidase, a debranching enzyme

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27
Q

GSD

Effects limit dextrin conversion to glucose

A 
Cori dse (Type IIIa)
Deficient amylo 1,6 glucosidase
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28
Q

Type V GSD

A

McArdle’s diasease

Deficiency in muscle phosphorylase

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29
Q

Enzyme deficiency in McArdle’ s disease

A

Muscle phosphorylase

Sx cramps in the muscle

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30
Q

GSD
Weakness and cramps in muscle
Increased glycogen

A

McArdle aka Type V GSD

Def in muscle phosphorylase

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31
Q

GSD

Deficiency in liver phosphorylase

A

HERS dse

Increased in glycogen like McArdle

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32
Q

GSD

Increased glycogen due to inability to activate to phosphorylase a

A

Phosphorylase b kinase deficinecy

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33
Q

Lipid disx
Increased level of cholesterol due to mutated LDL receptor
Reduced binding of LDL

A

Familial hypercholesterolemia

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34
Q

Lipid disx

Increased chylomicron TAG

A

Familial lipoprotein lipase deficiency

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35
Q

Lipid disx

Deficiency of lecithin cholesterol acyltransferase

A

Familial LCAT deficiency

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36
Q

Lipid dsx

Defective HDL synthesis

A

Tangier’s dse

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37
Q

Lipid disx

Elevated cholesterol in tissue and decreased plasma HDL

A

Tangier’s dse

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38
Q

Lipid disx

Deficient Apo E 3

A

Familial dysbetalipoprotenemia

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39
Q

Lipid disx

Defective synthesis of Apo B lipid complex

A

Abetalipoproteinemia

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40
Q

Lsysosomal storage disease-Mucopolysaccharidoses

X-linked deficiency of iduronosulfate sulfatase

A

Hunter’s Syndrome

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41
Q

Lysosomal Storage Disease-mucopolysaccharidoses
Mental and physical retardation
NO corneal clouding

A

Hunters Syndrome

Increased level of dermatan and heparan sulfate

42
Q

Lysosomal Storage Disease-mucopolysaccharidosis
Increased level of dermatan and heparan sulfate
Corneal clouding, mental and physical retardation
Early death

A

Hurler’s syndrome

Deficiency of alpha L idurodinase

43
Q

Lysosomal storage disease-mucopolysaccharidosis
Inc heparan and dermatan sulfate
Deficiency of alpha L idurodinase
Early death

A

Hurler’s syndrome

44
Q 
Lysosomal storage disease-mucopolysaccharidosis
Coneal clouding
Joint degeneration
Heart disease
NO retardation
NORMAL life expectancy
A

Schele’s syndrome

45
Q

Lysosomal storage diseases with defricency in alpha L iduronidase

A

Hurler’s, Schele’s

46
Q

Lysosomal Storage Disease- Mucopolysaccharidosis
Increased heparan sulfate
Severe mental retardation
Type III mucopolysaccharidosis

A

Sanfilippo’s syndrome

47
Q

Type III Mucopolysaccharidosis

A

Sanfilippo’s syndrome

48
Q

Enzyme deficiency in Sanfilippo’s Syndrome Type A

A

A: N-sulfatase
B: N-acetylglucosaminidase
C: N-acetylcoA, alphaglucosamine acetyletransferase
D: N-acetyl alpha D glucosamine 6 sulfatase

49
Q

Enzyme def in Sanfilippo Syndrome Type B

A

A: N-sulfatase
B: N-acetylglucosaminidase
C: N-acetylcoA, alphaglucosamine acetyletransferase
D: N-acetyl alpha D glucosamine 6 sulfatase

50
Q

Enzyme def in Sanfilippo Type C

A

A: N-sulfatase
B: N-acetylglucosaminidase
C: N-acetylcoA, alphaglucosamine acetyletransferase
D: N-acetyl alpha D glucosamine 6 sulfatase

51
Q

Enzyme def in San Filippo Type D

A

A: N-sulfatase
B: N-acetylglucosaminidase
C: N-acetylcoA, alphaglucosamine acetyletransferase
D: N-acetyl alpha D glucosamine 6 sulfatase

52
Q

Sphingolipidosis

Defective beta gangliosidase A

A

GM1 gangliosidosis

53
Q

Sphingolipidosis

Deficiency of hexosaminidase A

A

Tay Sachs disease

54
Q

Sphingolipidosis

Increased GM2 gangliosides

A

Tay Sachs disease

55
Q 
Sphingolipidosis
Associated with Ashkenazi (Eastern European), Jews
Macular cherry red spot
Retardation
Early death
A

Tay Sachs disease

56
Q

Sphingolipidosis
Deficiency of glucocerebrosidase
Increased glucocerebrosides

A

Gaucher’s dse

57
Q

Sphingolipidosis
Deficiency of sphingomyelinase
Mental retardation
Early death

A

Niemann-Pick’s Dse

58
Q

Enzyme def in Gaucher’s dse

A

Glucocerebroside

59
Q

Enzyme deficiency in Niemann-Pick’s dse

A

Sphingomyelinase

60
Q

Sphingolipidosis

Def of a-galactocerebrosidase A

A

Fabry’s Dse

61
Q

Sphingolipidosis

Increase ceramide trihexoside

A

Fabry’s dse

Deficiency of a-galactocerebrosidase

62
Q

This is the only sex linked sulfatidosis

A

Fabry’s disease

63
Q

Nitrogen base disorder
Deficiency of HGPRT
But has xanthine oxidase

A

Lesch Nyhan Syndrome

64
Q 
Nitrogen Base discorder
Associated with Gout
Increased serum Urate
Increased PRPP
Icreased hypoxanthine
Self destruction
Mental retardation
A

Lesch Nyhan

Due to dec HGPRT

65
Q

Analogue of xanthine, used in the treatment of gout
Inhibits xanthine oxidase
Decreased hypoxanthine conversion to urate
Does not resolce neurologic problems

A

Allopurinol

Used in Lesch Nyhan

66
Q

Enzyme involved in degradation of purines

Precursor of guanine

A

Xanthine oxidase

Hypoxanthine—> xanthine —> uric acid

67
Q

Nitrogen base disx

Leads to severe combinced immunodeficiency disorder

A

Adenosine deaminase deficiency

68
Q

The first gene transplanted into human cell DNA to develop tha immune system

A

Adenosine deaminase

69
Q

Deficiency of this enzyme eill shut off deoxyribose productionand decreases immune system

A

Adenosine deaminase

Adenosine is converted to inosine (purine degradation)

70
Q

Nitrigen base disorder

Deficiency of orotate phosphoribosyltransferase

A

Orotic aciduria

71
Q

Nitrogen base disx

Megaloblastic anemia

A

Orotic aciduria

72
Q

Nitrogen base disx

Deficiency of UV endonuclease

A

Xeroderma pigmentosum

73
Q

Nitrogen base disorder

Loss of excision repair to remove thymine dimers (created by UV radiation) forming dimers in DNA

A

Xeroderma pigmentosum

74
Q

3 enzymes involved in repair of dimers

A

Exonuclease
DNA polymerase I
DNA ligase

75
Q

Enzyme involved in the repair of thymine dimers
DNA repair and synthesis
Formation of phosphodiester bonds between molecules

76
Q

Hepatolenticular degeneration

Dermatitis

A

Wilsons dse

77
Q

Increased serum copper

A

Wilsons dse

78
Q

Deficiency of ceruloplasmin

A

Wilsons dse

79
Q

Enzyme def in acute intermittent porphyria

A

Porphobilinogen deaminase

80
Q

Dse associated with increased delta aminolevulonic acid (d-ALA)

A

Acute intermittent porphyria

81
Q

Defective formation of bilirubin glucuronide

A

Crigler-Najjar syndrome

82
Q

Deficiency of hepatic bilirubin UDP glucoronyl transferase

A

Crigler Najjar Syndrome

83
Q

Non-hemolytic jaundice,
Hyperbilirubinemia
Irreversible brain damage
Defective formation of bilirubin diglucoronide

A

Crigler Najjar syndrome

84
Q

Excessive iron storage

Frequent blood transfusion-related

A

Hemosiderosis

85
Q

Hemoglobinopathy

Glutamate—>Valine (less soluble) at position 6 on beta chain om hemoglobin

A

Sickle cell anemia

86
Q

Abnormal hemoglobin S

A

Sickle cell disease

Sickle cell trait- Hgb S and A

87
Q

Abnormal quantity of alpha and beta hemoglobin chains

Normal function of chains

A

Thalassemia

88
Q

Alpha or Beta thalassemia?

  1. May produce hgb H
  2. Gene deletion, impaired processing of mRNA, premature chain termination
A

1 alpha

2 beta

89
Q

Connective tissue disorder
Elastic skin loose joints
Collagen defects

A

Ehlers Danlos

90
Q

Decreased lysyl oxidase or lysyl hydroxylase

A

Ehlers Danlos Syndrome

91
Q

Deficiency of Type I collagen formation

Elastin defect

92
Q

Tall stature
Arachnodactyly
Weak arteries
Aortic aneurysm

93
Q

Decreased collagen synthesis

A

Osteogenesis imperfecta

94
Q

Brittle bone syndrome

A

Osteogenesis imperfecta

95
Q

Transport defect of tryptophan in intestinal and renal systems

A

Hartnup disease

96
Q

Defective cystine, lysine, arginine, ornithine transport

A

Cystinuria

Cystine crystals and stone formation

97
Q

X linked recessive
Factor 9 def
Hemophilia B

A

Christmas dse

98
Q

Massive hemorrhage after trauma or operation
Normal bleeding time
Prolonged coagulation time

A

Factor 8 def, hemophilia a, x-linked recesive aka classic hemophilia
Tx: factor 8 concentrate

99
Q

Deficiency of branching enzyme
Increase polysaccharide with few branch points
Death from heart or liver failure before age 5

A

Type IV

Andersen dse

100
Q

Deficiency of branching enzyme
Increase polysaccharide with few branch points
Death from heart or liver failure before age 5

A

Type IV

Andersen dse

Biochemistry by mgcMD (19 decks)

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