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Flashcards in Biochem Pathology Deck (163):
1

Causes of high anion gap?

MUDPILES
methanol, uremia, diabetic ketoacidosis, paraldehyde, propylene glycol, isoniazid, lactic acidosis, ethylene glycol, salicylates

2

Stops electron flow from substrate to oxygen

ETC inhibitor

3

NADH dehydrogenase inhibitors

Barbiturate,Piericidin A,Amytal,Rotenone

Roten ONE

4

Succinate dehydrogenase inhibitors

Malonate, Carboxin, TTFA

5

Blocks Ubiquinol: ferricytochrome oxidoreductase

Antimycin A, Dimercaprol

6

Increase permeability of the inner mitochondrial membrane to protons

Uncouplers

7

Examples of synthetic uncouplers include:

2,4 dinitrophenol, aspirin

8

Examples of uncoupling proteins

Thermogenin

9

Overdose of this drug can cause excessively high body temperature due to ETC uncouplig

Aspirin

10

Directly inhibit mitochondrial ATP synthase

ATP synthase inhibitor

11

Example of ATP synthase inhibitor

Oligomycin

12

Mitochondrial disease affecting all the complexes can cause

Fatal infantile mitochondrial myopathy

13

Mitochondrial disease affecting complex I

MELAS

14

Mitochondrial disease affecting complex II

Kearns-Sayre syndrome

15

Mitochondrial disease affecting complex III

Lebers Hereditary Optic Neuropathy

16

Mitochondrial disease affecting complex IV

Leighs Disease, Ragged Red Muscle Fiber disease

17

Mitochondrial disease are ---- inherited

Maternally

18

Inhibits pyruvate dehydrogenase by binding to lipoic acid, competes with inorganic phosphatase as a substrate for glyceraldehyde-3-P dehydrogenase

Arsenic poisoning

19

Most common enzyme defect in glycolysis

Pyruvate kinase deficiency

20

Manifests as chronic hemolytic anemia/ intravascular hemolytic anemia , (-) Heinz

Pyruvate kinase deficiency

21

Present with intravascular hemolytic anemia, (+) Heinz bodies

G6PD

22

Low exercise capacity, particulary on high carbohydrate diets

Muscle phosphofructokinase deficiency

23

Most common biochemical cause of congenital lactic acidosis

Pyruvate dehydrogenase deficiency

24

Increased lactate and decreased acetyl coA leads to deprivation of acetyl coA in the brain causing psychomotor retardation amd death

Pyruvate dehydrogenase deficiency

25

Management for Pyruvate dehydrogenase deficiency

Ketogenic diet

26

Alcohol + nutritional deprivation can lead to deficiency of what vitamin

Thiamin deficiency

27

Occurs when venous blood glucose concentration exceeds 10mmol/L and GFR contains more glucose than can be reabsorbed

Glucosuria

28

Glycogen storage disease Type I

Von Gierke's

29

Glycogen storage disease Type II

Pompe's

30

Glycogen storage disease Type III

Cori's

ABCD
Anderson- Branching
Cori- Debranching

31

Glycogen storage disease Type IV

Andersen's

ABCD
Anderson- Branching
Cori- Debranching

32

What are the glycogen storage diseases?

Von gierk, Pompe, Cori, Andersen, McaArdle, Her, Tarui

33

Deficiency in glucose 6- phosphatase

Glycogen storage disease Type I

V(one) gierke

34

Acid maltase deficiency/ lysosomal alpha 1,4 glucosidase

glycogen storage disease type II

Pompe

THE POLYSE Arrest of 1 of the 4 Girls

(Police=pompe+ Lys alpha 1,4 Glucosidase

35

Debranchig enzyme deficiency

glycogen storage disease type III

Cori

ABCD
Anderson- Branching
Cori- Debranching

36

Branching enzyme deficiency

glycogen storage disease type IV

Anderson

ABCD
Anderson- Branching
Cori- Debranching

37

Skeletal muscle glycogen phosphorylase deficiency

glycogen storage disease type V

38

Hepatic glycogen phosphorylase deficienxy

glycogen storage disease type VI

39

PFK deficiency

glycogen storage disease type VII

40

Hepatic phosphoylase kinase deficiency

glycogen storage disease type VIII

41

Glycogen in liver and renal cells

glycogen storage disease type I

42

Glycogen in lysososomes, cardiomegaly and heart failure

glycogen storage disease type II

43

Early death from heart and liver failure

glycogen storage disease type IV

44

Glycogen in muscle, muscle cramps + myoglobinuria but no lactic acidosis

glycogen storage disease type v

45

Glycogen in liver cells, hypoglycemia

glycogen storage disease type VI

46

Causes galactosemia and galactosuria, causes cataracts in EARLY childhood

Galactokinase deficiency

47

Galactosuria,galactosemia, cataracts within a few days of birth, vomiting and diarrhea after milk ingestion, hypoglycemia, letharygy, hypotonia

Gal-1-P uridyltransferase deficiency

48

Also called classic galactosemia

Galactos-1-P uridyltransferase deficiency

GALIPUT

49

One of the few absolute contraindication to breastfeeding

Classic galactosemia

50

Defect in fructokinase

Essential fructosuria

51

Benign and asymptomatic whose only symptom is the appearance of fructose in blood and urine

Essential fructosuria

52

Deficiency in aldolase B

Fructose intolerance

53

Fructose intolerance is a deficiency in what aldolase?

Aldolase B

54

What substrate accumulates in fructose intolerance?

Fuctose 1-P

55

Leads to decr. Phosphate, decr. Glycogenolysis and decr gluconeogenesis. Manifests as hypoglycemia, jaundice, cirrhosis, and vomiting

Fructose intolerance

56

Aldolase B deficiency can lead to what type of renal disorder?

Proximal renal tubule disorder

57

After initiation of breastfeeding, Accumulation of what substance causes cataracts?

Galactitol

58

In DM, accumulation of what compound leads to formation of cataracts?

Sorbitol

59

Used in diagnosing thiamine deficiency

RBC Transketolase activity

60

Most common disease producing enzyme abnormality in humans

G6PD deficiency

61

Involves a decrease in NADPH in RBCs and decreased activity of glutathione reductase

G6PD deficiency

62

Most common cause of acute attack in G6PD deficiency

Infection

63

Drugs that can cause hemolysis in G6PD deficiency

Sulfonamides, chloramphenicol, primaquine, anti pyretics except ASA and paracetamol

64

Found in G6PD deficiency

Bite cells/ Heinz bodies

65

Deficiency in NADPH oxidase

Chronic Granulomatous Disease

66

Manifests as severe, persistent and chronic pyogenic infections caused by catalase (+) bacteria

Chronic Granulomatous Disease

67

Occurs in NB and can manifest as hypoglycemia from impaired FA oxidation and muscle weakness from lipid accumulation

Carnitije deficiency

68

Affects only the liver resulting in reduced FA oxidation and ketogenesis with hypoglycemia

CPT-1- deficiency

69

During fasting, hypoglycemia can become profound due to lack of ATP to support gluconeogensis

Medium-chain fatty acyl-CoA dehydrogenase (MCAD) deficiency

70

Particularly susceptible infants can manifest with SIDS

Medium-chain fatty acyl-CoA dehydrogenase (MCAD) deficiency

71

Management of Medium-chain fatty acyl-CoA dehydrogenase (MCAD) deficiency

IV glucose

72

Jamaican Vomiting Sickness is Caused by eating unripe fruit of what tree?

Akee

73

The akee tree contains this toxin wc inactivates medium-short chain acyl-CoA dehydrogenase and leads to hypoglycemia

Hypoglycin

74

...

Refsum's disease

75

Cerebrohepatorenal syndrome wc occurs in individuals with absent peroxisomes in all tissues

Zellweger's syndrome

76

Liver dysfunction with jaundice, marked mental retardation, weakness , hypotonia, craniofacial dysmorphism

Zellweger's syndrome

77

Defect in peroxisomal activation of VLCGA

X-linked adrenoleukodystrophy

78

Initially with apathy and behavioral change. Visual loss, spasticity, and ataxia follow. Patients usually die a few years after the onset of neurologic symptoms

X-linked adrenoleukodystrophy

79

Manifests as dehydration, CNS depression and coma, potassium depletion, metabolic acidosis, sweet fruity odor of breath

Ketoacidosis

80

Classically DKA is associated with this type of diabetes

DM type 1

81

Urine test for ketones

Nitroprusside test

82

Statins are competitive inhibitors of what enzyme?

HMG CoA reductase

83

Manifests as xanthomas and pancreatits,no increased risk for coronary heart disease

Familial lipoprotein lipase deficiency

84

Deficiency in LDL receptors

Familial hypercholesterolemoa

85

Manifest as xanthomas and xanthelesmas with increased rsk for coronary heart disease

Familial hypercholesterolemoa

86

Deficiency in apo-E

Familial dysbetalipoproteinemia

87

A deficiency in Apo E results in high remnants of what lipoproteins?

VLDL and chylomicron

88

Increased VLDL production

Familial hypertriglyceridemia

89

Familial hypertriglyceridemia presents with a triad of:

Coronary artery disease, DM type 2, obesity

90

Deficiency manifesting with intestinal malabsorption with accumulation of lipids in intestine and liver

Apo 848 and 100 deficiency

91

Results from Apo 848 and 100 deficiency

Abetalipoproteibnemia

92

Apo-A1 deficiency resulting in no HDL

Familial a-lipoprotein deficiency

93

High HDL associates with benefits to long health and logevity

Familial hyperalphalipoproteinrmia

94

High LpA resulting to early atherosclerosis and thrombosis

Familial lipoprotein A excess

95

Non-treponemal test for syphilis

Anti-cardiolipin test

96

Deficiency in phospholipids and sphingolipids from white matter resulting in increased CSF phospholipids

Demyelinaing disease

97

Lipid storage disease manifesting in earl childhood where lipid degredation in lysosomes is abnormal

Spingolipidoses

98

Deficiency of hexosaminidase A

Tay-sachs disease

SACH

Spot in macula
Ashkenazi jews
Cns degeneration
Hex A deficiency
Storage disease

99

Cherry red macula, MT and hypotonia

Tay-sachs disease

100

a-galactosidase deficiency

Fabry's disease

101

Recessive, Rash, Renal failure

Fabry's disease

102

Ceraminidase deficiency

Farber's disease

103

Skin rash, hoarseness, bone malformation

Farber's disease

104

Arylsulatase A deficiency

Metachromic leukodystrophy

105

B-galacosidase deficiency

Krabbe's disease

106

B-glucosidase deficiency

Gaucher's disease

107

Manifests with hepatosplenomegaly+ erosion of long bones

Gaucher's disease

108

Sphingomyelinase deficiency, foam cells, cherry red macula

Niemann-Pick disease

109

Foam cells are found in what disease?

Tay-Sachs

110

Crumpled tissue paper

Niemann- Pick

111

Branched-chain amino acids whose metabolites accumulate in maple syrup urine disease

Valine, leucine, isoleucine

112

Deficient in PKU

Phenylalanine hydroxylase

113

Fatal neurodegenerative diseases characterized by spongiform changes, astrocytic gliomas, and neuronal loss resulting from deposition protein aggregates in neural cells

Prion diseases

114

Prion disease in cannobalistic tribes

Kuru

115

Characteristic of alzheimer's disease

Neurofibrillary bundles, aggregates of B-amyloid

116

Implicated as a potential mediator of transformation in Alzheimer's

Apolipoprotein E

117

Chocolate cyanosis is found where

Methemoglobinemia

118

Management for methemoglobin

Methylene blue/ ascorbic acid

119

Cherry pink Hb, 200x greater affinity for Hb

Carboxyhemoglobin

120

Management for carboxyhemoglobin

100% O2

121

Hb bound to carbon Monoxide

Carboxyhemoglobin

122

Hb bound to carbon dioxide

Carbaminohemoglobin

123

Cut off for HbA1c

>6.5%

124

Mutations in hereditary spherocytosis

Ankyrin(most common) , spectrin

125

In sickle cell disease , coding for B-chain results in --- rather than glutamate

Valine

126

Sickle cell is protective against?

Malaria

127

Hb variant with a single amino acid substition in the 6th position of B-globin chan where LYSINE is substituted for glutamate

Hemoglobin C

128

Inadequate synthesis of a-chains

Alpha Thalassemia

129

Defect in collagen type III

Ehler- Danlos syndrome

130

Hyperextensible skin, tendency to bleed, hypermobile joints, inc. risk for berry aneurysms

Ehler Danlos syndrome

131

Brittle bone syndrome

Osteogenesis imperfecta

132

Abnormal collagen type I

Osteogenesis imperfect

133

Multiple fractures, blue sclerae, hearing loss, dental imperfection

Osteogenesis imperfecta

134

Sore, spongy gums, loose teeth, poor wound healing, petehiae on skin andm

Scurvy

135

Hematuria, end stage renal disease

Alport's syndrome

136

Defect in type IV collagen

Alport's syndrome

137

Kinky hair and growth retardation

Menke's syndrome

138

Due to dietary deficiency in Copper

Menke's syndrome

139

Defect in Type VII collagen

Epidermolysis Bullosa

140

Taller,thinner, dolichostenomelia, arachnodactyly, ascending aortic dilatation

Marfan syndrome

141

Marfan syndrome has a mutation in what gene?

Fibrilline

142

Elatase destroys the alveolar walls , resulting to emphysema

A1 antitrypsin deficiency

143

Phenylalanine is normally converted to what?

Tyrosine

144

Hormones that depend on tyrosine as raw material

Thyroid, Melanin, catecholamines

145

Congenital deficiency of homogentisic acid oxidase

Alkaptonuria

146

Congenital deficiency in tyrosinase/ tyrosine transporters

Albinism

147

Lack of melanin results to incr risk of ?

Skin cancer

148

Cystathionine deficiency

Homocystinuria

149

Stroke/MI in the young, mental retardation, osteoporosis, tall stature, kyphosis, lens sublaxation

Homocystinuria

150

Common inherited defect of renal tubular amino acid transporter for onithine, lysine and arginine in PCT of kidneys

Cystinuria

151

Mgmt for Cystinuria

Acetazolamide

152

Type of urolithiasis that crystallizes more in alkaline urine

Magnesium alkaline phosphate/ struvite

153

A-ketoacid deficiency

Maple syrup urine disease

154

Photosensitivity, abdominal pain, neutopsychiatric symptoms

Porphyrias

155

Most common Porphyria

Porphyria cutanea tarda

156

Pyridoxine deficiency associated with isoniazid therapy

Sideroblqstic anemia with ringed sideroblasts

157

Inactivates ALA dehydratase, ferrochelatasr

Lead poisoning

158

Claw hand, wrist drop, basophilic stipling

Lead poisoning

159

Increased MCHC

Heriditay spherocytosis

160

All mucopolysaccharidoses are autosomal recessive except

Hunter syndrome- x linked recessive

161

All mucopolysaccharidoses have mental retardation except

Morquio's syndrome

162

All mucopolysaccharidoses are autosomal recessive except

Hunter syndrome- x linked recessive

163

All mucopolysaccharidoses have mental retardation except

Morquio's syndrome