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
2
Q
Stops electron flow from substrate to oxygen
A
ETC inhibitor
3
Q
NADH dehydrogenase inhibitors
A
Barbiturate,Piericidin A,Amytal,Rotenone
Roten ONE
4
Q
Succinate dehydrogenase inhibitors
A
Malonate, Carboxin, TTFA
5
Q
Blocks Ubiquinol: ferricytochrome oxidoreductase
A
Antimycin A, Dimercaprol
6
Q
Increase permeability of the inner mitochondrial membrane to protons
A
Uncouplers
7
Q
Examples of synthetic uncouplers include:
A
2,4 dinitrophenol, aspirin
8
Q
Examples of uncoupling proteins
A
Thermogenin
9
Q
Overdose of this drug can cause excessively high body temperature due to ETC uncouplig
A
Aspirin
10
Q
Directly inhibit mitochondrial ATP synthase
A
ATP synthase inhibitor
11
Q
Example of ATP synthase inhibitor
A
Oligomycin
12
Q
Mitochondrial disease affecting all the complexes can cause
A
Fatal infantile mitochondrial myopathy
13
Q
Mitochondrial disease affecting complex I
A
MELAS
14
Q
Mitochondrial disease affecting complex II
A
Kearns-Sayre syndrome
15
Q
Mitochondrial disease affecting complex III
A
Lebers Hereditary Optic Neuropathy
16
Q
Mitochondrial disease affecting complex IV
A
Leighs Disease, Ragged Red Muscle Fiber disease
17
Q
Mitochondrial disease are —- inherited
A
Maternally
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
19
Q
Most common enzyme defect in glycolysis
A
Pyruvate kinase deficiency
20
Q
Manifests as chronic hemolytic anemia/ intravascular hemolytic anemia , (-) Heinz
A
Pyruvate kinase deficiency
21
Q
Present with intravascular hemolytic anemia, (+) Heinz bodies
A
G6PD
22
Q
Low exercise capacity, particulary on high carbohydrate diets
A
Muscle phosphofructokinase deficiency
23
Q
Most common biochemical cause of congenital lactic acidosis
A
Pyruvate dehydrogenase deficiency
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
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
