I - Biochemistry Flashcards
(406 cards)
2
Q
Negative logarithm of hydrogen ion concentration
A
pH (Body pH 7.35-7.45)
3
Q
Any substance that resists a change in pH when protons are produced or consumed
A
Buffer
4
Q
Chemical compound that has a total net charge of zero
A
Zwitterion
5
Q
pH at which the zwitterion is the predominant form of a chemical compound
A
Isoelectric pH (pI)
6
Q
Between a water molecule and another polar compound
A
Hydrogen bond (partially positive)
7
Q
Between glucose and galactose in lactose
A
Glycosidic bond
8
Q
Primary bond of glucosyl residues in glycogen
A
a (1-4) glycosidic bond
9
Q
Branching bond of glucosyl residues in glycogen
A
a (1-6) glycosidic bond
10
Q
Between glycerol and its fatty acids
A
Ester bond
11
Q
Between serine and alanine in a protein
A
Peptide bond (partial double bond)
12
Q
Between two cysteine residues in cystine
A
Disulfide bond
13
Q
Between ribose and adenine in adenosine monophosphate
A
B-N glycosidic bond
14
Q
Between nucleotides on a DNA strand
A
Phosphodiester bond
15
Q
Between C-G and A-T base pairs on DNA
A
Hydrogen bond
16
Q
This equation is used to calculate the concetration of a weak acid and its conjugate base
A
Henderson-Hasselbalch Equation
17
Q
This equation describes how a reaction velocity varies with substrate concentration
A
Michaelis-Menten Equation
18
Q
This is a double reciprocal plot used to calculate Km and Vmax as well as to determine the mechanism of action of enzyme inhibitors
A
Lineweaver-Burke Plot
19
Q
Explains how the free energy generated by the transport of electrons by the ETC is used to produce ATP from ADP + Pi
A
Mitchell Chemiosmotic Hypothesis
20
Q
Accepts H+ ions
A
Base
21
Q
Donates protons
A
Acid
22
Q
pKa below 7
A
Acid
23
Q
pKa above 7
A
Base
24
Q
Glycogen
A
Carbohydrate
25
Q
cAMP
A
Nucleic acid
26
Collagen
Protein
27
Palmitate
Lipid
28
Inosine monophosphate
Nucleic acid
29
Sorbitol
Carbohydrate
30
Vitamin A
Lipid
31
Insulin
Protein
32
Substrate concentration at which the reaction velocity is equal to 1/2 Vmax
Michaelis constant (Km)
33
Maximal velocity of an enzyme-catalyzed reaction
Vmax
34
The structure of the inhibitor resembles the substrate
Competitive inhibition
35
Vmax is lowered
Competitive inhibition
36
Km does not change
Noncompettive inhibition
37
Affinity of enzyme to the substrate is decreased
Competitive inhibition
38
The inhibitor and the substrate bind at different sites on the enzyme
Noncompettive inhibition
39
Malathion's effect on acetylcholinesterase
Noncompettive inhibition
40
Simvastatin's effect on HMG-CoA reductase
Competitive inhibition
41
What is the formula for standard free energy?
delta G=delta H-delta S
42
Measure of energy available to do work
delta G
43
Measure of randomness
Entropy (delta S)
44
Measure of heat released or absorbed during a reaction
Enthalpy (delta H)
45
Free energy change under standard conditions (reactants and products at 1mol/L)
Standard free energy change (delta G o)
46
Give the two ways in which your cells produce ATP
Oxidative phosphorylation, substrate level phosphorylation
47
Endergonic reaction
Positive
48
Energy of the products is less than the energy of the reactants
Negative
49
Exothermic reaction
Not enough data
50
Spontaneous reaction
Negative
51
Rate of formation of products is the same as the rate of formation of reactants
Zero
52
Anaerobic glycolysis
Substrate level phosphorylation
53
Electron transport chain
Oxidative phosphorylation
54
NADH and FADH2 from TCA
Oxidative phosphorylation
55
GTP from TCA
Substrate level phosphorylation
56
Requires oxygen
Oxidative phosphorylation
57
Only method of ATP production for RBCs
Substrate level phosphorylation
58
Entry point for NADH
Complex I
59
Entry point for FADH2
Complex II
60
Generation of proton gradient
Complexes I, III, and IV
61
ATP production by oxidative phosphorylation
Complex V
62
Aspirin, Thermogenin
Uncoupler
63
Amytal
Complex I
64
Oligomycin
Direct inhibition of ATP synthase
65
Carbon monoxide, cyanide, hydrogen sulfide
Complex IV
66
Dimercaprol
Complex III inhibitor
67
Maltose
Disaccharide
68
Mannose
Monosaccharide
69
Cellulose
Polysaccharide
70
Lactose
Disaccharide
71
Sorbitol
Monosaccharide
72
Glycogen
Polysaccharide
73
a-D-fructose and B-D-fructose
Anomers
74
Galactose and mannose
Isomers
75
Glucose and mannose, glucose and galactose
Epimers
76
D-Galactose and L-Galactose
Enantiomers (Optical Isomers)
77
Requires insulin
Glut 4
78
Brain and RBC
Glut 1
79
Liver and Pancreas
Glut 2
80
Absorption of fructose in small intestine by facilitated diffusion
Glut 5
81
Adipose tissue, skeletal muscle, and cardiac muscle
Glut 4
82
Brain, kidney, placenta
Glut 3
83
Conversion of glucose to 2 molecules of either pyruvare or lactate
Glycolysis
84
Production of glucose from precursors such as lactate, glycerol, glucogenic amino acids, intermediates of glycolysis and TCA cycle
Gluconeogenesis
85
Synthesis of storage form of carbohydrates fro UDP-glucose
Glycogenesis
86
Retrieval of glucose from its storage form
Glycogenolysis
87
Produces NADPH, ribose 5P, and provides a mechanism for metabolic use of 5C sugars
Pentose-Phosphate Pathway (HMP) [No energy required nor produced)
88
Final common pathway for the aerobic oxidation of carbohydratesm lipids, and proteins
Tricarboxylic acid cycle
89
Reduced coenzymes NADH and FADH2 each donate a pair of electrons to a specialized set of electron carriers
Electron transport chain
90
Glycogenesis
Anabolic
91
Krebs cycle
Amphibolic
92
Beta-oxidation
Catabolic
93
Embden-Meyerhof Pathway
Catabolic
94
Conversion of pyruvate to alanine
Anabolic
95
Glycolysis (Rate-limiting enzyme)
Phosphofructokinase 1
96
Gluconeogenesis (Rate-limiting enzyme)
Fructose 1,6-bisphosphatase
97
Glycogenesis (Rate-limiting enzyme)
Glycogen synthase
98
Glycogenolysis (Rate-limiting enzyme)
Glycogen phosphorylase
99
Hexose-monophosphate shunt (Rate-limiting enzyme)
Glucose-6-phosphate dehydrogenase
100
TCA cycle (Rate-limiting enzyme)
Isocitrate dehydrogenase
101
Lipogenesis (Rate-limiting enzyme)
Acetyl CoA carboxylase
102
Lipolysis (Rate-limiting enzyme)
Carnitine palmitoyl transferase I (Carnitine acyl transferase I)
103
Ketogenesis (Rate-limiting enzyme)
HMG CoA synthase
104
Cholesterol synthesis (Rate-limiting enzyme)
HMG CoA reductase
105
Bile acid synthesis (Rate-limiting enzyme)
Cholesterol 7-a-hydroxylase
106
Steroid hormone synthesis (Rate-limiting enzyme)
Desmolase
107
Urea cycle (Rate-limiting enzyme)
Carbamoyl Phosphate Synthetase I
108
Heme synthesis (Rate-limiting enzyme)
ALA synthase
109
De Novo Purine synthesis (Rate-limiting enzyme)
Glutamine PRPP Aminotransferase
110
De Novo Pyrimidine synthesis (Rate-limiting enzyme)
Carbamoyl Phosphate Synthetase II
111
Where glycolysis occurs
All cells
112
Where glycogen synthesis occur
Liver and muscle
113
Where gluconeogenesis occur
Liver and kidney
114
Ketogenesis occurs where?
Liver
115
Urea cycle occurs where?
Liver
116
Electron transport chain occurs where?
All cells where Mitochondria is present and oxygen is abundant
117
Hexose monophosphate shunt occurs where?
RBCs and cells where lipid production is abdundant
118
Glycolysis
Cytoplasm
119
TCA cycle
Mitchondria
120
Electron transport chain
Inner mitonchondrial membrane
121
Gluconeogenesis
Both cytoplasm and mitochondria
122
Hexose monophosphate shunt occurs
Cytoplasm
123
Fatty acid synthesis
Cytoplasm
124
Beta oxidation
Mitochondria
125
Degradation of glycogen by acid maltase
Lysosome
126
Oxidation of very long chain fatty acids
Peroxisome
127
Heme synthesis
Both cytoplasm and mitochondria
128
Transport of cytostolic NADH to the inner mitochondrial membrane, present in muscle and brain
Glycerophosphate shuttle
129
Transport of cytostolic NADH to the inner mitochondrial membrane, present in liver, kidney and heart
Malate aspartate shuttle
130
Transport of mitochondrial acetyl coA into the cytoplasm to produce a 16-C fatty acid
Citrate shuttle
131
Transport of cystostolic palmitoyl CoA into the mitochondria for beta oxidation
Carnitine shuttle
132
ATPs produced from anaerobic glycolysis
2
133
ATPs produced from aerobic glycolysis
6 or 8
134
ATPs produced from each molecule of FADH2 in TCA
2
135
ATPs produced from each molecule of NADH2 in TCA
3
136
ATPs produced from complete oxidation of glucose
36 or 38
137
ATPs produced from complete oxidation of palmitate
129
138
Present in liver parenchymal cells and islet cells of the pancreas
Glucokinase
139
Phosphorylates glucose and other hexoses
Both
140
Low Km
Hexokinase
141
High Vmax
Glucokinase
142
Pyruvate to Acetyl CoA (Enzyme)
Pyruvate Dehydrogenase
143
Pyruvate to Lactate (Enzyme)
Lactate Dehydrogenase
144
Pyruvate to Oxaloacetate (Enyzme)
Pyruvate Carboxylase
145
Pyruvate to Ethanol (Enzyme)
Pyruvate Decarboxylase
146
Pyruvate to Alanine (Enzyme)
Alanine Aminotransferase
147
Pyruvate to lactate requires?
NADH
148
Isocitrate to a-Ketoglutarate
NAD+
149
Pyruvate to acetyl coA requires?
NAD+, FAD+
150
Succinate to fumarate requires?
FAD
151
Acetyl CoA to Palmitate requires?
NAD+
152
Succinate thiokinase enzyme produces?
GTP
153
a-ketoglutarate dehydrogenase produces?
NADH, CO2
154
Malate dehydrogenase produces?
NADH
155
Aconitase produces?
None
156
Succinate dehydrogenase produces?
FADH2
157
Creates a(1,4) linkages and elongates the glycogen chains?
Glycogen synthase
158
Transfers 5 to 8 glucosyl residues and creates a(1,6) linkages
Branching enzyme
159
Cleaves a(1,4) bonds to produce glucose 1 P
Glycogen phosphorylase
160
Cleaves a(1,4) bonds and a(1, 6) to produce free glucose
Debranching enzyme
161
Long chain of carboxylic acid with no double bond
Saturated fatty acid
162
Long chain of carboxylic acid with one double bond
Monounsaturated fatty acid
163
Long chain of carboxylic acid with two or more double bonds
Polyunsaturated fatty acid
164
Fatty acids associated with increased risk of atherosclerosis
Trans fatty acids and Saturdated fatty acids
165
Essential fatty acids
Linoleic and Linolenic F.A.
166
Immediate precurosor of prostaglandins
Arachidonic Acid
167
End product of fatty acid synthesis
Palmitate
168
3-C compound that is a product of oxidation of odd-mumbered fatty acids
Propionyl CoA
169
The 3 ketone bodies
Betahydroxybutyrate, acetone, acetoacetic acid
170
3 organs that use ketons as fuel source
Muscle, renal cortex, brain in prolonged fast
171
2 primary bile acids
Chenodeoxycholate and colic acid
172
Clinical manifestation of lipid malabsportion
Steatorrhea
173
Spherical macromolecular complexes composed of a neutral lipid core surrounded by a shell of amphipathic lipoproteins, phospholipid, and nonesterified cholesterol
Lipoprotein
174
Protein moeity of lipoproteins
Apoproteins
175
Transport dietary triglyceride and cholesterol from intestine to tissues
Chylomicrons
176
Transport triglyceride from liver to tissues
VLDL
177
Delivers cholesterol into cells
LDL
178
Reverse cholesterol transport
HDL
179
Shuttles apo C-II and apo E in the blood
HDL
180
Highest triglycerdie content
Chylomicrons
181
Highest protein content
HDL
182
Highest cholesterol content
LDL
183
Mediates chylomicron secretion
Apo B48
184
Activates lipoprotein lipase
Apo C-II
185
Mediates uptake of chylomicron remnant
Apo E
186
Binds to LDL receptor and mediates VLDL secretion
Apo B-100
187
Activates LCAT to produce cholesteryl esters in HDL
Apo A-1
188
Degradation of TAG stored in adipocytes
Hormone sensitive lipase
189
Degradation of dietary TAG in small intestine
Pancreatic lipase
190
Degradation of TAG circulating in chylomicrons ang TAGs
Lipoprotein lipase
191
Degradation of TAG in IDL
Hepatic TAG lipase
192
Major component of lung surfactant
Dipalmitoylphosphatidylcholine
193
Only glycerophospholipid that is antigenic
Cardiolipin
194
Reservoir for arachidonic acid in the membranes and precursor for IP3 and DAG
Phosphatidylinositol
195
Important constituent of myelin
Sphingomyelin
196
Acidic amino acids
Aspartate and Glutamate
197
Basic amino acids
Histidine, arginine, lysine
198
Smallest side chain
Glycine
199
Largest side chain
Tryptophan
200
Causes kinks in collagen
Proline
201
Plays a role in oxygen binding to hemoglobin and myoglobin
Histidine
202
Transfer of methyl groups as SAM
Methionine
203
Diagnosis of folic acid deficiency
Histidine
204
Nutritionally essential amino acids
PVT TIM HALL
205
Hemoglobin synthesis
Glycine
206
Precursor of niacin
Tryptophan
207
Precursor of nitric oxide
Arginine
208
Precursor of melanin
Tyrosine
209
Precursor of serotonin
Tryptophan
210
Precursor of catecholamines
Tyrosine
211
Precursor of melatonin
Tryptophan
212
Precursor of GABA
Glutamate
213
Precursor of histamine
Histidine
214
Precursor of thyroid hormones
Tyrosine
215
Precursor of Tyrosine
Phenylalanine
216
Precursor of glutathione
Glutamate
217
Precursor of homocysteine
Methionine
218
Beta pleated sheet
Secondary structure
219
Sequence of amino acids
Primary structure
220
Determines whether protein is globular or fibrous
Tertiary structure
221
More than one polypeptide
Quaternary structure
222
Edman's reagent
Primary structure
223
Domains
Tertiary structure
224
Contains heme (Hemoglobin or Myoglobin)
Hemoglobin and Myoglobin
225
Fibrous protein (Hemoglobin or Myoglobin)
None
226
Only exhibits tertiary structure (Hemoglobin or Myoglobin)
Myoglobin
227
Found in heart and skeletal muscle (Hemoglobin or Myoglobin)
Myoglobin
228
Binds four molecules of oxygen at a time (Hemoglobin or Myoglobin)
Hemoglobin
229
Binding of oxygen is affected by changes in pH and CO2 concentration (Hemoglobin or Myoglobin)
Hemoglobin
230
Reservoir of oxygen (Hemoglobin or Myoglobin)
Myoglobin
231
Exists in taut and relaxed form (Hemoglobin or Myoglobin)
Hemoglobin
232
Sigmoidal oxygen dissociation curve (Hemoglobin or Myoglobin)
Hemoglobin
233
Most abundant form in adults
Hemoglobin A
234
Hemoglobin bound to 4 oxygen molecules
R form
235
Hemoglobin without any oxygen molecule bound to it
T form
236
Non-enzymatic addition of glucose to hemoglobin, used to determine level of control of diabetes mellitus
HBA1C
237
Oxidation of the heme component of hemoglobin to Fe3+, which cannot bind oxygen
Methemoglobin
238
Carbon monoxide binds tightly but reversibly to the hemoglobin iron
Carboxyhemoglobin
239
Carbon dioxide bound to hemoglobin for transport in the blood
Carbaminohemoglobin
240
Tetramer consisting of two alpha chains and gamma chains
Fetal hemoglobin
241
Gamma tetramers in the newborn
Hemoglobin Barts
242
Most common collagen type
Type I
243
Type of collagen, basement membrane
Type IV
244
Type of collagen, granulation tissue
Type III
245
Type of collagen, reticulin and blood vessels
Type III
246
Type of collagen, nucleus polposus, vitreous body and cartilage
Type II
247
Type of collagen, tendon, fascia, bone
Type I
248
Nitrogen balance in pregnancy
Positive
249
Nitrogen balance in malignancy
Negative
250
Give 3 compounds in which organisms excrete excess nitrogen
Ammonia, uric acid, urea
251
Through this enzyme, amino acids transfer their amino groups to glutamate
Aminotransferases
252
Through this enzyme, glutamate is oxidatively deaminated to liberate free ammonia
Glutamate dehydrogenase
253
Through this enzyme, glutamine is synthesized from glutamate and ammonia
Glutamine synthase
254
Through this enzyme, glutamine is deaminated to glutamate in the kidneys and intestines
Glutaminase
255
Which 3 compounds are the immediate donors of the atoms of urea
Aspartate, free ammonia, carbon dioxide
256
Pyruvate transamination will produce
Alanine
257
Alpha-ketoglutarate transamination will produce
Glutamate
258
Oxaloacetate transamination will produce
Aspartate
259
(Glucogenic vs. Ketogenic) Lysine, Leucine
Ketogenic
260
(Glucogenic vs. Ketogenic) Valine
Purely Glucogenic
261
(Glucogenic vs. Ketogenic) Tyrosine, Isoleucine, Phenylalanine
Both
262
Glycosaminoglycan which is an impotant coagulant
Heparin
263
Glycosaminoglycan that attracts water into the ECM
Hyaluronic acid
264
Glycosaminoglycan that determines charge selectiveness of renal glomerulus
Heparan sulfate
265
Glycosaminoglycan that is located at sites of calcification of endochondral bone
Chondroitin sulfate
266
Glycoprotein that serves as a lubricant and a protective agent
Mucin
267
Glycoprotein that serves as transport molecules
Transferrin, ceruloplasmin
268
Glycoprotein that are considered immunologic molecules
Immunoglobulins
269
Oligosaccharide in blood type A
N-acetylgalactosamine
270
Oligosaccharide in blood type B
Galactose
271
(Activated or Inhibited?) high insulin; glucose 6-phosphatase
Inhibited
272
(Activated or Inhibited?) low glucagon; pyruvate kinase
Activated
273
(Activated or Inhibited?) high epinephrine; HMG CoA reductase
Inhibited
274
(Activated or Inhibited?) high cAMP; HMG CoA synthase
Activated
275
(Activated or Inhibited?) Phosphorylation; glycogen synthase
Inhibited
276
Transketolase reactions in the HMP shunt (Vitamins)
Vitamin B1
277
Prevents atherosclerotic plaque formation (Vitamins)
Vitamin E
278
Normalizes calcium levels in response to hypocalcemia (Vitamins)
Vitamin D
279
Acetyl CoA to Malonyl CoA (Vitamins)
Biotin
280
Hydroxylation of collagen (Vitamins)
Vitamin C
281
Hartnup disease (Vitamins)
Niacin
282
Condensation of glycine and succinyl CoA (Vitamins)
Vitamin B6
283
All aminotransferases (Vitamins)
Vitamin B6
284
Carboxylation of glutamic acid residues in coagulation factors (Vitamins)
Vitamin K
285
Diarrhea, dementia, dermatitis (Vitamins)
Vitamin B3
286
Co-factor for acyl transfers and component of fatty acid synthase (Vitamins)
Vitamin B5
287
Megaloblastic anemia (Vitamins)
Vitamin B12, Folate
288
Retrieval of glucose from glycogen (Vitamins)
Vitamin B6
289
Teratogenic (Vitamins)
Vitamin A
290
Deficiency may result in hemolysis (Vitamins)
Vitamin E
291
Anencephaly and spina bifida (Vitamins)
Folic Acid
292
Increase iron absorption (Vitamins)
Vitamin C
293
Anemia and hemochromatosis (Mineral)
Iron
294
Glutathione peroxidase (Mineral)
Selenium
295
Carbonic anhydrase, alcohol dehydrogenase, DNA and RNA polymerase (Mineral)
Zinc
296
Cytochrome oxidase, dopamine, B-hydroxylase, monoamine oxidase, tyrosinase (Mineral)
Copper
297
Thyroid hormone synthesis (Mineral)
Iodine
298
Inorganic substance of bones and teeth (Mineral)
Fluorine
299
Cytosine, Uracil, Thymine (Purine or Pyrimidine)
Pyrimidine
300
Adenine, Guanine, Hypoxanthine (Purine or Pyrimidine)
Purine
301
Ring is constructed on a preformed ribose-5-phosphate (Purine or Pyrimidine)
Purine
302
APRT and HGPRT for salvage pathway (Purine or Pyrimidine)
Purine
303
PRPP is donor of ribose-5-phosphate (Purine or Pyrimidine)
Both
304
Ring can be opened and degraded to highly soluble structures (Purine or Pyrimidine)
Pyrimidine
305
What is the parent purine?
IMP
306
What is the parent pyramidine?
OMP
307
What enzyme converts ribonucleotides to deoxyribonucleotides?
Ribonucleotide reductase
308
Which enzymes converts AMP to ADP and GMP to GDP?
Monophosphate kinase
309
Chargaff's Rules (DNA or RNA)
DNA
310
Uracil (DNA or RNA)
RNA
311
Usually double stranded (DNA or RNA)
DNA
312
More susceptible to hydrolysis (DNA or RNA)
RNA
313
DNA to RNA
Transcription
314
RNA to protein
Translation
315
DNA to DNA
Replication
316
RNA to DNA
Reverse Transcription
317
Prinbow box
Transcription, prokaryotic
318
Hogness box
Transcription, eukaryotic
319
Shine Dalgarno sequence
Translation
320
Lac Operon
Transcription
321
Sigma factor
Transcription
322
Unwinds double helix
Helicase
323
Removes supercoils
Topoisomerase
324
Identifies origin of replication
DNA A protein
325
Synthesis of RNA primer
Primase
326
Maintains the separation of the parental strands
SS DNA-Binding proteins
327
Elongation of leading strand
DNA Polymerase III
328
Excision of primers
DNA Polymerase I
329
Seals the nick between Okazaki fragments
Ligase
330
Largest (mRNA, tRNA, rRNA, snRNA)
mRNA
331
Smallest (mRNA, tRNA, rRNA, snRNA)
tRNA
332
Most abundant (mRNA, tRNA, rRNA, snRNA)
rRNA
333
Site of protein synthesis (mRNA, tRNA, rRNA, snRNA)
rRNA
334
Carries genetic information from nuclear DNA to the cytosol (mRNA, tRNA, rRNA, snRNA)
mRNA
335
Presence of unusual bases (mRNA, tRNA, rRNA, snRNA)
tRNA
336
Poly-A tail (mRNA, tRNA, rRNA, snRNA)
mRNA
337
3'-CCA sequence (mRNA, tRNA, rRNA, snRNA)
tRNA
338
mRNA processing and gene regulation (mRNA, tRNA, rRNA, snRNA)
snRNA
339
Conserved from very early stages of evolution (Genetic code)
Universal
340
Given amino acid may have more than one codon coding for it (Genetic code)
Degenerate
341
Codon always code for the same amino acid (Genetic code)
Specific
342
Empty tRNA (A site, P site, E site)
E site
343
Growing peptide chain (A site, P site, E site)
P site
344
Incoming aminoacyl tRNA (A site, P site, E site)
A site
345
Stop codons
UGA, UAA, UAG
346
Give the codon coding for methionine
AUG
347
Methylguanosine cap (Post-transciptional or Post-translational)
Post-Transcriptional
348
Removal of introns (Post-transciptional or Post-translational)
Post-Transcriptional
349
Hydroxylation of collagen (Post-transciptional or Post-translational)
Post-Translational
350
Conversion of proinsulin to insulin (Post-transciptional or Post-translational)
Post-Translational
351
Chronic hemolytic anemia, most common enzyme defect in glycolysis
Pyruvate Kinase Deficiency
352
Flatulence, cramps, and diarrhea after ingestion of diary products
Lactose Intolerance
353
Severe fasting hypoglycemia, hepatomegaly, elevated gylcogen in liver
Von Gierke Disease- Glucose 6-phophatase deficiency
354
Cardiomegaly and heart failure from impaired glycogen metabolism
Pompe Disease
355
Hepatomegaly, milder forn of Von Gierke disease
Cori Disease- Debranching enzyme deficency
356
Myoglobinuria with strenous exercise
Mc Ardle Disease
357
Decreased NADPH in RBCs leads to hemolytic anemia due to poor RBC defense against oxidizing agents
G6PD Deficiency
358
Recurrent pyogenic infections due to impairment of respiratory burst of neutrophils and monocytes
Chronic Granulomatous Disease- NADPH Oxidase deficiency
359
Cataracts within a few days of birth, vomiting and diarrhea after milk ingestion, lethargy, hypotonia, mental retardation
Classic Galactosemia- Galactosemia 1P Uridyltransferase Deficiency
360
Galactosemia, galactosuria, cataracts in early childhood
Galactokinase Deficiency
361
Benign Fructosuria
Fructokinase Deficiency
362
Fructosuria, severe, hypoglycemia, lactic acidosis, liver damage, jaundice
Aldolase B Deficiency- Fructose Intolerance
363
Progressive cognitive and behavioral impairment due to accumulation of amyloid plaques in the hippocampus and cerebral cortex
Alzheimer Disease
364
Fatal neurodegenerative disease characterized by spongiform changes, astroclyclic gliomas, and neuronal loss
Prion Disease
365
Glutamate replaced by valine at position 6 of the beta globulin chain, causing hemoglobin that polymerizes inside the RBC
Sickel Cell Disease
366
Synthesis of alpha chains is decreased or absent
Alpha Thalassemia
367
Synthesis of beta chains is decreased or absent
Beta Thalassemia
368
Spectrin Deficiency causes spherical RBCs that are rapidly culled by the spleen
Hereditary Spherocytosis
369
Blue Sclerae, multiple fractures, conductive hearing loss
Osteogenesis Imperfecta
370
Berry Aneurysms, hyperextensible skin, hypermobile joints, tendency to bleed
Ehler- Danlos
371
Loose teeth, sore spongy gums, poor wound healing, petechia on skin and mucouse membranes
Scurvy
372
The skin breaks and blisters as a result of minor trauma
Epidermolysis Bullosa Dystrophica
373
Hereditary nephritis with sensorineural hearing loss
Alport Syndrome
374
Aortic dilatation, dolichostenomelia, arachnodactyly
Marfan
375
Panacinar emphysema and live failure
Alpha 1 Antitrypsin Deficiency
376
Hepatolenticular degeneration from accumulation of copper in tissues, with low levels of ceruloplasmioon
Wilson's Disease
377
Impaired transfer of copper from intestinal mucosal cells to the blood leading to growth retardation, mental deficiency, and kinky hair
Menke's Syndrome
378
Severe mental retardation, coarse facial features, and skeletal abnormalities from accumulation of partially degraded glycoproteins in lysosomes
I-Cell Disease
379
Musty body odor mental retardation, growth retardation, fair skin, eczema
Phenylketonuria
380
Urine turns black upon standing with debilitating arthralgias
Alkaptonuria
381
Decreased pigmentation that increases risk for skin cancer
Albinism
382
Atherosclerosis, lens subluxation, stroke, myocardial infarction, osteoporosis, tall stature
Homocysteinuria
383
Staghorn calculi due to inherited defect of renal tubular amino acid transporter
Cytinuria
384
Mental retardation from blocked degradation of branched-chain amino acids
Maple Syrup Urine Disease
385
Photosensitivity, chronic inflammation to over blistering and shearing in exposed areas of the skin due to defects in heme synthesis
Porphyrias
386
Protein deprivation that is relatively greater than the reduction in total calories
Kwashorkor
387
Caloric deprivation is relatively greater than reduction in protein
Marasmus
388
Alcohol lead to fat accumulation
Fatty Liver
389
Cerebrohepatorenal syndrome due to absence of peroxisomes
Zellweger Syndrome
390
Defect peroxisomal activation of VLCFA lead to accumulation of VLCFA in the blood and tissues
X-linked Adrenoleukodystrophy
391
Accumulation of phytanic acid
Refsum's Disease
392
Hypoglycin from unripe fruit of the akee tree inactivates medium-and short- chain acyl CoA dehydrogenase
Jamaican Vomiting Sickness
393
Excess TAGs and chylomicrons in blood leads to deposition in liver, skin, pancreas
Type I Hypertriglyceridemia-genetic absence of lipoprotein lipase
394
Elevated LDL cholesterol with increased risk for atherosclerosis and coronary artery disease
Type II Hypertriglyceridemia-LDL receptor deficiency
395
Accumulation of fat in the intestinal enterocyte and hepatocyte, with deficiency in fat soluble vitamins and essential fatty acids
Abetalipoproteinemia
396
Failure to thrive, salt-wasting, hypoglycemia, ambiguous genitalia
Congenital Adrenal Hyperplasia
397
Mental retardation, cherry-red spot on macula, lysosomes with onion skin, but no hepatomegaly from accumulation of GM2 ganglioside
Tay-Sachs Disease
398
Mental retardation, aseptic necrosis of femur, enlarged liver and spleen from accumulation of glycosylceramide
Gaucher's Disease
399
Mental retardation, enlarged liver and spleen, cherry red spot on macula, foam cells, from accumulation of sphingomyelin
Niemann-pick Disease
400
Acute arthritis with deposition of uric acid
Gout
401
Gout and self mutilation
Lesch-Nyhan Syndrome-HGPRT deficiency
402
Severe combined Immunodeficiency
Adenosine Deaminase Deficiency
403
Abnormal growth, megaloblastic anemia, prostate in urine
Orotic Aciduria
404
Xeroderma pigmentosum
Inability to repair thymine dimers
405
Hereditary Nonpolyposis Colon Cancer
Inability to repair mismatched strands
406
Hungtington's Disease
Triple Repeat Expansion
407
Sickle Cell Disease
Point Mutation
