Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Biochemistry > Biochem Pathology > Flashcards

Biochem Pathology Flashcards

1
Q

Causes of high anion gap?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Stops electron flow from substrate to oxygen

A

ETC inhibitor

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

NADH dehydrogenase inhibitors

A

Barbiturate,Piericidin A,Amytal,Rotenone

Roten ONE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Succinate dehydrogenase inhibitors

A

Malonate, Carboxin, TTFA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Blocks Ubiquinol: ferricytochrome oxidoreductase

A

Antimycin A, Dimercaprol

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Increase permeability of the inner mitochondrial membrane to protons

A

Uncouplers

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Examples of synthetic uncouplers include:

A

2,4 dinitrophenol, aspirin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Examples of uncoupling proteins

A

Thermogenin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

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

A

Aspirin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Directly inhibit mitochondrial ATP synthase

A

ATP synthase inhibitor

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Example of ATP synthase inhibitor

A

Oligomycin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Mitochondrial disease affecting all the complexes can cause

A

Fatal infantile mitochondrial myopathy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Mitochondrial disease affecting complex I

A

MELAS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Mitochondrial disease affecting complex II

A

Kearns-Sayre syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Mitochondrial disease affecting complex III

A

Lebers Hereditary Optic Neuropathy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Mitochondrial disease affecting complex IV

A

Leighs Disease, Ragged Red Muscle Fiber disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Mitochondrial disease are —- inherited

A

Maternally

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

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

A

Arsenic poisoning

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Most common enzyme defect in glycolysis

A

Pyruvate kinase deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

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

A

Pyruvate kinase deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Present with intravascular hemolytic anemia, (+) Heinz bodies

A

G6PD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Low exercise capacity, particulary on high carbohydrate diets

A

Muscle phosphofructokinase deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Most common biochemical cause of congenital lactic acidosis

A

Pyruvate dehydrogenase deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

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

A

Pyruvate dehydrogenase deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Management for Pyruvate dehydrogenase deficiency

A

Ketogenic diet

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Alcohol + nutritional deprivation can lead to deficiency of what vitamin

A

Thiamin deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

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

A

Glucosuria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Glycogen storage disease Type I

A

Von Gierke’s

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Glycogen storage disease Type II

A

Pompe’s

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Glycogen storage disease Type III

A

Cori’s

ABCD
Anderson- Branching
Cori- Debranching

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Glycogen storage disease Type IV

A

Andersen’s

ABCD
Anderson- Branching
Cori- Debranching

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

What are the glycogen storage diseases?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Deficiency in glucose 6- phosphatase

A

Glycogen storage disease Type I

V(one) gierke

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Acid maltase deficiency/ lysosomal alpha 1,4 glucosidase

A

glycogen storage disease type II

Pompe

THE POLYSE Arrest of 1 of the 4 Girls

(Police=pompe+ Lys alpha 1,4 Glucosidase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Debranchig enzyme deficiency

A

glycogen storage disease type III

Cori

ABCD
Anderson- Branching
Cori- Debranching

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

Branching enzyme deficiency

A

glycogen storage disease type IV

Anderson

ABCD
Anderson- Branching
Cori- Debranching

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

Skeletal muscle glycogen phosphorylase deficiency

A

glycogen storage disease type V

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

Hepatic glycogen phosphorylase deficienxy

A

glycogen storage disease type VI

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

PFK deficiency

A

glycogen storage disease type VII

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

Hepatic phosphoylase kinase deficiency

A

glycogen storage disease type VIII

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

Glycogen in liver and renal cells

A

glycogen storage disease type I

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

Glycogen in lysososomes, cardiomegaly and heart failure

A

glycogen storage disease type II

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

Early death from heart and liver failure

A

glycogen storage disease type IV

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

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

A

glycogen storage disease type v

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

Glycogen in liver cells, hypoglycemia

A

glycogen storage disease type VI

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

Causes galactosemia and galactosuria, causes cataracts in EARLY childhood

A

Galactokinase deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

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

A

Gal-1-P uridyltransferase deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

Also called classic galactosemia

A

Galactos-1-P uridyltransferase deficiency

GALIPUT

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

One of the few absolute contraindication to breastfeeding

A

Classic galactosemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

Defect in fructokinase

A

Essential fructosuria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

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

A

Essential fructosuria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

Deficiency in aldolase B

A

Fructose intolerance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

Fructose intolerance is a deficiency in what aldolase?

A

Aldolase B

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

What substrate accumulates in fructose intolerance?

A

Fuctose 1-P

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

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

A

Fructose intolerance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

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

A

Proximal renal tubule disorder

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

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

A

Galactitol

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

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

A

Sorbitol

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

Used in diagnosing thiamine deficiency

A

RBC Transketolase activity

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

Most common disease producing enzyme abnormality in humans

A

G6PD deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

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

A

G6PD deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
62
Q

Most common cause of acute attack in G6PD deficiency

A

Infection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
63
Q

Drugs that can cause hemolysis in G6PD deficiency

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
64
Q

Found in G6PD deficiency

A

Bite cells/ Heinz bodies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
65
Q

Deficiency in NADPH oxidase

A

Chronic Granulomatous Disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
66
Q

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

A

Chronic Granulomatous Disease

67
Q

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

A

Carnitije deficiency

68
Q

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

A

CPT-1- deficiency

69
Q

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

A

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

70
Q

Particularly susceptible infants can manifest with SIDS

A

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

71
Q

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

A

IV glucose

72
Q

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

A

Akee

73
Q

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

A

Hypoglycin

74
Q

…

A

Refsum’s disease

75
Q

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

A

Zellweger’s syndrome

76
Q

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

A

Zellweger’s syndrome

77
Q

Defect in peroxisomal activation of VLCGA

A

X-linked adrenoleukodystrophy

78
Q

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

A

X-linked adrenoleukodystrophy

79
Q

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

A

Ketoacidosis

80
Q

Classically DKA is associated with this type of diabetes

A

DM type 1

81
Q

Urine test for ketones

A

Nitroprusside test

82
Q

Statins are competitive inhibitors of what enzyme?

A

HMG CoA reductase

83
Q

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

A

Familial lipoprotein lipase deficiency

84
Q

Deficiency in LDL receptors

A

Familial hypercholesterolemoa

85
Q

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

A

Familial hypercholesterolemoa

86
Q

Deficiency in apo-E

A

Familial dysbetalipoproteinemia

87
Q

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

A

VLDL and chylomicron

88
Q

Increased VLDL production

A

Familial hypertriglyceridemia

89
Q

Familial hypertriglyceridemia presents with a triad of:

A

Coronary artery disease, DM type 2, obesity

90
Q

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

A

Apo 848 and 100 deficiency

91
Q

Results from Apo 848 and 100 deficiency

A

Abetalipoproteibnemia

92
Q

Apo-A1 deficiency resulting in no HDL

A

Familial a-lipoprotein deficiency

93
Q

High HDL associates with benefits to long health and logevity

A

Familial hyperalphalipoproteinrmia

94
Q

High LpA resulting to early atherosclerosis and thrombosis

A

Familial lipoprotein A excess

95
Q

Non-treponemal test for syphilis

A

Anti-cardiolipin test

96
Q

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

A

Demyelinaing disease

97
Q

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

A

Spingolipidoses

98
Q

Deficiency of hexosaminidase A

A

Tay-sachs disease

SACH

Spot in macula
Ashkenazi jews
Cns degeneration
Hex A deficiency
Storage disease
99
Q

Cherry red macula, MT and hypotonia

A

Tay-sachs disease

100
Q

a-galactosidase deficiency

A

Fabry’s disease

101
Q

Recessive, Rash, Renal failure

A

Fabry’s disease

102
Q

Ceraminidase deficiency

A

Farber’s disease

103
Q

Skin rash, hoarseness, bone malformation

A

Farber’s disease

104
Q

Arylsulatase A deficiency

A

Metachromic leukodystrophy

105
Q

B-galacosidase deficiency

A

Krabbe’s disease

106
Q

B-glucosidase deficiency

A

Gaucher’s disease

107
Q

Manifests with hepatosplenomegaly+ erosion of long bones

A

Gaucher’s disease

108
Q

Sphingomyelinase deficiency, foam cells, cherry red macula

A

Niemann-Pick disease

109
Q

Foam cells are found in what disease?

A

Tay-Sachs

110
Q

Crumpled tissue paper

A

Niemann- Pick

111
Q

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

A

Valine, leucine, isoleucine

112
Q

Deficient in PKU

A

Phenylalanine hydroxylase

113
Q

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

A

Prion diseases

114
Q

Prion disease in cannobalistic tribes

A

Kuru

115
Q

Characteristic of alzheimer’s disease

A

Neurofibrillary bundles, aggregates of B-amyloid

116
Q

Implicated as a potential mediator of transformation in Alzheimer’s

A

Apolipoprotein E

117
Q

Chocolate cyanosis is found where

A

Methemoglobinemia

118
Q

Management for methemoglobin

A

Methylene blue/ ascorbic acid

119
Q

Cherry pink Hb, 200x greater affinity for Hb

A

Carboxyhemoglobin

120
Q

Management for carboxyhemoglobin

A

100% O2

121
Q

Hb bound to carbon Monoxide

A

Carboxyhemoglobin

122
Q

Hb bound to carbon dioxide

A

Carbaminohemoglobin

123
Q

Cut off for HbA1c

A

> 6.5%

124
Q

Mutations in hereditary spherocytosis

A

Ankyrin(most common) , spectrin

125
Q

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

A

Valine

126
Q

Sickle cell is protective against?

A

Malaria

127
Q

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

A

Hemoglobin C

128
Q

Inadequate synthesis of a-chains

A

Alpha Thalassemia

129
Q

Defect in collagen type III

A

Ehler- Danlos syndrome

130
Q

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

A

Ehler Danlos syndrome

131
Q

Brittle bone syndrome

A

Osteogenesis imperfecta

132
Q

Abnormal collagen type I

A

Osteogenesis imperfect

133
Q

Multiple fractures, blue sclerae, hearing loss, dental imperfection

A

Osteogenesis imperfecta

134
Q

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

A

Scurvy

135
Q

Hematuria, end stage renal disease

A

Alport’s syndrome

136
Q

Defect in type IV collagen

A

Alport’s syndrome

137
Q

Kinky hair and growth retardation

A

Menke’s syndrome

138
Q

Due to dietary deficiency in Copper

A

Menke’s syndrome

139
Q

Defect in Type VII collagen

A

Epidermolysis Bullosa

140
Q

Taller,thinner, dolichostenomelia, arachnodactyly, ascending aortic dilatation

A

Marfan syndrome

141
Q

Marfan syndrome has a mutation in what gene?

A

Fibrilline

142
Q

Elatase destroys the alveolar walls , resulting to emphysema

A

A1 antitrypsin deficiency

143
Q

Phenylalanine is normally converted to what?

A

Tyrosine

144
Q

Hormones that depend on tyrosine as raw material

A

Thyroid, Melanin, catecholamines

145
Q

Congenital deficiency of homogentisic acid oxidase

A

Alkaptonuria

146
Q

Congenital deficiency in tyrosinase/ tyrosine transporters

A

Albinism

147
Q

Lack of melanin results to incr risk of ?

A

Skin cancer

148
Q

Cystathionine deficiency

A

Homocystinuria

149
Q

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

A

Homocystinuria

150
Q

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

A

Cystinuria

151
Q

Mgmt for Cystinuria

A

Acetazolamide

152
Q

Type of urolithiasis that crystallizes more in alkaline urine

A

Magnesium alkaline phosphate/ struvite

153
Q

A-ketoacid deficiency

A

Maple syrup urine disease

154
Q

Photosensitivity, abdominal pain, neutopsychiatric symptoms

A

Porphyrias

155
Q

Most common Porphyria

A

Porphyria cutanea tarda

156
Q

Pyridoxine deficiency associated with isoniazid therapy

A

Sideroblqstic anemia with ringed sideroblasts

157
Q

Inactivates ALA dehydratase, ferrochelatasr

A

Lead poisoning

158
Q

Claw hand, wrist drop, basophilic stipling

A

Lead poisoning

159
Q

Increased MCHC

A

Heriditay spherocytosis

160
Q

All mucopolysaccharidoses are autosomal recessive except

A

Hunter syndrome- x linked recessive

161
Q

All mucopolysaccharidoses have mental retardation except

A

Morquio’s syndrome

162
Q

All mucopolysaccharidoses are autosomal recessive except

A

Hunter syndrome- x linked recessive

163
Q

All mucopolysaccharidoses have mental retardation except

A

Morquio’s syndrome

Biochemistry (8 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions