A Case Oriented Approach Towards Biochemistry Namrata Chhabra, Sahil Chhabra, Sahiba Kukreja
INDEX
Page numbers followed by f refer to figure and t refer to table
A
Abciximab 563
Abdominal
distension 461
obesity 426
pain 30, 307
striae in Cushing syndrome 358f
Abnormal
cardiac rhythms 334
eye movements 19
insulin 428
muscle and fat metabolism 413
Absent deep reflexes 196
Absorption 228
Acanthosis nigricans syndromes 407
Accelerated loss of vitamin D 252
Acetaminophen 23, 436
Acetanilide 23
Acetylsalicylic acid 23
Acid
base balance 479
excretion 483
phosphatase 616
Acidosis 171, 592
induced hyperkalemia 591f
Acquired
conjugation defects 299
immunodeficiency syndrome 466
Actinomycin D 609
Activation of
G-proteins 155
protein kinase C 417
renin angiotensin system 351
thiamine-to-thiamine pyrophosphate 207f
Acute
acetaminophen toxicity 437
blood loss 269
complications of DM 415
digoxin intoxication 592
glomerulonephritis 26
heart failure 570
hemolysis 24f
hepatocellular necrosis 570
HIV infection 471
intermittent porphyria 307, 308
kidney injury 542
myocardial infarction 557, 564, 649
pancreatitis 184
renal failure 536, 540542, 653
respiratory distress syndrome 318
tubular necrosis 537
Addison’s disease 344, 348, 355
Adenosine
deaminase deficiency 161
triphosphate 28
Adipose tissue disorders 407
Adrenal
hormones and metabolites 614
hyperplasia 359
macronodular hyperplasia 359
micronodular dysplasia 359
tumors 361
Adrenergic receptors and mechanism of action 391
Adrenocorticotropic hormone 344, 357, 361
stimulation test 346
Adult respiratory distress syndrome 505, 508
Advanced glycosylation end products 417
Aglycone 1
Agranulocytosis 443
Airway obstruction 505
ALA
dehydratase
deficiency 307
deficient porphyria 308
synthase 307
Alanine aminotransferase 568
Albinism 122
Albumin 73, 617
Alcohol dehydrogenase 440, 501
Alcoholic
hepatitis 72
cirrhosis 570
liver disease 68
Aldosterone 345, 575, 614
Alimentary glycosuria 26
Alkali therapy 490
Alkaline
diuresis 201
phosphatase 73, 302, 384, 568, 616
Alkaptonuria 120, 653
Alpha thalassemia 322, 323
syndrome 324
Alport’s syndrome 543
Altered
lipoprotein metabolism 92
mental status 334
Alzheimer’s disease 97, 98f
Amino acid 108
Aminolevulinic acid 621
Aminotransferases 73
Amiodarone 67
Ammonia 484
Amniocentesis 529
Amniotic cell culture 529
Amylase 616
Amyloidosis 543, 552
infiltrating tongue in multiple myeloma 102f
Amylopectinosis 47
Analgesic nephropathy 543
Analog of vasopressin 589
Anaphylaxis 508
Andersen’s disease 47
Anemia 236, 328, 443
Angiotensin converting enzyme 560
inhibitors 563
Anion gap 613, 645
in metabolic acidosis 497
Anisopoikilocytosis 325
Ankle joint instability 110
Anorexia 447, 549
Anosmia 77
Antidepressant drugs 462
Antidiuretic hormone 365, 575, 615
Antidote 595
of methotrexate 612
Antiepileptic drugs 419
Anti-HIV drug treatment 476
Anti-idiotypes antibodies 477
Anti-insulin antibodies 428
Antiphospholipid syndrome 345
Antisense oligonucleotide exon skipping 114
Anti-streptolysin O titer 616
Antithyroglobulin antibody 377
Antithyroid
antibodies 380
drugs 372
peroxidase antibody 377
Anxiety disorders 395
Aortorenal angiography 540
Arachnodactyly 110
Arginase 148
deficiency 149
Arginine hydrochloride 592
Argininosuccinic
acid
lyase 148
synthetase 148
aciduria 149
Arterial blood gas 118, 211, 334, 488, 501, 622
analysis 201
determination 506, 512
Ascites 118
Ascorbic acid 23, 27, 240
Asparaginase 609
Aspartate aminotransferase 70, 182, 443, 565, 616
Aspiration 443, 511
Aspirin 562
Assessing acid-base status 480
Asthma 511
Asymptomatic
HIV infection 473
hyperuricemia 170
hypocalcemia 287
Ataxia telangiectasia 428, 535
Atherogenic dyslipidemia 427
Atherosclerosis 557
Atherosclerotic cardiovascular disease 426
Atrial natriuretic peptide 575
Autonomic neuropathy 418
Azacytidine 609
Azathioprine 609
B
Babies of diabetic mothers 35
Bacillary angiomatosis 473
Barotrauma 505, 508
Barrel shaped chest 118
Bartter and Gitelman’s syndromes 597
Base excision repair 531
B-cell leukemia 535
Bence Jones proteins 100, 103
Benedicts test 637
Benign recurrent intrahepatic cholestasis 300
Beta
blocker drugs 592
thalassemia syndromes 326
Bexarotene 609
Bicarbonate 397, 424, 613, 617, 645
Biguanides 420
Bile acid sequestrants 91
Biliary
atresia 298
cirrhosis 298
excretion 296
obstruction 298, 301
Bilirubin 73, 617
fractions 300
Biosynthesis of cholesterol 89
Bitot spots 246
Bleeding time 614
Bleomycin 609
Blephritis 529
Blindness 246, 502
Blood
ammonia 567
donation 269
gas analysis 198, 499, 503
glucose estimation 33
pressure 642
measurement 430
smear 319
testing procedures 404
tests 341, 433
urea 642
nitrogen 341, 539, 556, 578
volume 614
Bloom syndrome 535
Bluish coloring of skin 333
Bone
density 384
marrow transplantation 8, 10
X-rays 384
Bony enlargement of joints 110
Bradykinin 130
Brain
injury 181
MRI 512
Breast cancer 607
Brittle bone syndrome 115
Bronchial carcinoma 365
Bronchitis 473, 505, 508
Brown adipose tissue 452
Burkitt’s lymphoma 535
C
Calcitonin 615
Calcium 617
chloride 595
gluconate 595
metabolism 282
Calculation of PCO2 652
Camptothecin 527
Cancer 601
Candidiasis 473
Carbamoyl phosphate 148f
synthase 146148
Carbon
monoxide poisoning 192
tetrachloride 67
Carcinoid 395
syndrome 129, 130
tumors 130
Carcinoma 366
of biliary duct 298
Cardiac
arrhythmias 198
glycosides 1
troponins 183
Cardiorespiratory arrest 443
Cardiovascular
disease 429
manifestations 370
Carmustine 608
Carpal tunnel syndrome 379
Carrier protein deficiency 26
Cataracts 38, 77, 109, 215
Catecholamine 511, 614
degradation 391
Categories of HIV infection 473
Causes of
acute pancreatitis 184
carnitine deficiency 64
folate deficiency 225
hypercalcemia 279
hypernatremia 585, 587
hyperuricemia 165, 171
immune deficiency 470
kwashiorkor 447
marasmus 446
metabolic acidosis 497, 498t
nonalcoholic steatosis 66
syndrome of inappropriate antidiuretic hormone 366
urea cycle disorders 147
vitamin D deficiency 252
volume depletion 537
CBC count 52, 270
Celiac disease 262
Central nervous system 33, 124, 366, 510, 585
Cephalosporins 27
Ceramidase 53
Ceramide 53
Cerebral
edema 424, 589
infarction 589
Cerebrospinal fluid 77, 512
Cerebrovascular accident 510
Certain congenital heart diseases 508
Ceruloplasmin 617
Cervical
cancer 473
carcinoma in situ 473
dysplasia 473
Chediak-Higashi syndrome 122
Chemistry of
carbohydrates 1
lipids 51
nucleotides 154
Chemotherapy 527
Cherry red spot 54
Chest radiography 507, 512
Chloramphenicol 23
Chloride 397, 617
channel activators 462
depletion 492
resistant
alkalosis 493
metabolic alkalosis 495
Chloroquine 23
Chlorpropamide 420
Cholangitis 298
Choledochal cyst 298
Choledocholithiasis 298
Cholelithiasis 81
Cholera 154, 156
toxin 158f
Cholesterol stones 82
Chondroitin 4, 6-sulfate 9
6-sulfate 9
sulfate 5, 6
Chorionic villous sampling 529
Chvostek’s sign 388
Chromosomal translocation in Burkitt’s lymphoma 605f
Chronic
acetaminophen poisoning 437
blood loss 269
bronchitis 511
colitis 218
complications of DM 416
gout 168
hepatocellular disorders 570
infection 538
intestinal disease 205
kidney disease 543545
myelogenous leukemia 535
pyelonephritis 543
renal failure 653
ulcer 473
Ciprofloxacin 23
Cirrhosis of liver 73, 218
Cisplatin 609
Citrin deficiency 150
Citrulline plus aspartate forms argininosuccinate 147
Classes of cancer genes 601
Classical phenylketonuria 125
Classification of
acute renal failure 536
diabetes mellitus 399
jaundice 297, 298t
lactose intolerance 12
serum enzymes 568
SIADH 367
Clinical role of heparin 3
Clostridium perfringens 104, 106, 107
Clot retraction 614
Cloudiness of cornea 529
Cobalamin 228
Coccidioidomycosis 473
Cockayne’s syndrome 535
Coenzyme role of vitamin C 239
Collagen vascular diseases 543
Comb test 475
Common causes of hypoglycemia in adults 32
Comparative genomic hybridization 603, 607
Complete blood
cell 24
count 506, 512, 560
count 57, 377, 621
Complications of
cystic fibrosis 521
diabetes mellitus 415
Graves’ disease 373
insulin therapy 409
type 1
diabetes mellitus 410
vitamin K deficiency 264
Computed tomography 99, 512
Confirmation of diabetes mellitus 404
Congenital
coronary anomalies 558
erythropoietic porphyria 311, 653
heart defects 215
lactase deficiency 12
Congestive
cardiac failure 538
heart failure 511
Conjugated hyperbilirubinemia 297, 298, 301, 567
Conn’s syndrome 349, 352, 355
Conservation of iron 268
Contraction alkalosis 492
Copper 617
containing hydroxylases 239
deficiency 291
metabolism 290
toxicity 291
Coproporphyrinogen oxidase 307
Cori’s disease 47
Corneal clouding 9
Coronary
artery
disease 416
graft bypass surgery 564
emboli 558
spasm 558
trauma 558
Corticosteroids therapy 113
Corticotrophin releasing hormone 344, 357
Cotrimoxazole 23
Creatine
kinase 181, 560
phospho kinase 181
CRH stimulation test 347, 360
Crigler-Najjar syndrome 298
Crohn’s disease 232
Crushing muscular trauma 181
Cryptococcosis 473
CT
brain scan 212
scan of chest 118
scanning 512
of brain 507
of chest 507
Cullen’s sign 185
Cushing’s
disease 26, 348, 357
syndrome 26, 357, 359361, 395, 400, 406, 454, 493, 495
Cyanide ion 188
Cyclophosphamide 608
Cyclosporine 171
Cyproheptadine 132
Cystic fibrosis 262, 493, 519
Cystine crystals in urine 135f
Cystinosis 136
Cystinuria 133
Cytomegalovirus
disease 473
retinitis 473
Cytosine arabinoside 609
D
Dacarbazine 609
Daunorubicin 609
Decreased
hepatic bilirubin clearance 299
hepatic uptake 299
iron intake or absorption 270
uric acid excretion 166, 171
Deficiency of
nitric oxide 145
vitamin K 261
Degeneration of retina 77
Dehydration 487, 576
Demonstration of viral nucleic acid 475
Deoxyribonucleic acid 466, 467, 514, 608
Dephosphorylation of proteins 156
Dermatan sulfate 5, 9
Desmopressin
acetate 589
stimulation test 364
Detection of
antibodies 474
antigen 474
Detoxification of acetaminophen 437f
Development of vaccine 477
Dexamethasone corticotrophin-releasing hormone test 359
Diabetes
insipidus 171, 362, 364, 576, 653
mellitus 26, 66, 397, 399, 412, 548, 552, 558, 616
Diabetic
cataract 418
gangrene 419
ketoacidosis 171, 415, 421, 422, 578, 653
in pregnancy 425
nephropathy 418, 543, 549, 653
neuropathy 417419
Diagnosis of
hypoglycemic mechanism 33
lactose intolerance 12
porphyrias 313
Diaphoresis 394
Diarrhea 205, 262, 346, 447, 597
Dietary
deficiency 231
fiber and total fiber 462
Diffuse enlargement of thyroid gland 371f
DiGeorge syndrome 289
Digitalis purpurea 2
Dilated cardiac myopathy 394
Diminished cell mediated immunity 474
Diphtheria-pertusis-tetanus 161
Direct bilirubin 295, 641
Diseases of glomeruli or vasculature 537
Distribution of
body water 573
electrolytes in body 573
Diuretic therapies 205
Dizziness 442, 577
Dopamine 614
Doppler ultrasonography 540
Dot blot assay 475
Double-strand break repair 535
Down’s syndrome 400
Doxorubicin 23, 609
Drug
hypersensitivity 543
induced Cushing syndrome 360
Dry
beriberi 204
mouth 577
Dual-energy X-ray absorptiometry 384
Dubin-Johnson syndrome 298, 300
Duchenne’s muscular dystrophy 111, 113, 114
Dyslipidemia 558
Dystrophin 112
sarcoglycan complex protein 112f
E
Ectopic insulin secretion 33
Edema 554
Electrocardiogram 60, 190, 559, 593, 594, 628
Electrolyte
composition of
ECF 573
ICF 573
imbalance 572
Electromyography 50, 507
Electrophoresis 103
Elevated serum alkaline phosphatase 647
ELISA 475
Embden-Meyerhof pathway 17
Emotional glycosuria 26
Emphysema 505, 508, 511
Encephalitis 510
End stage renal disease 548
Endocrinal role of adipose tissue 453
Endogenous hyperinsulinism 32
Endoscopic retrograde cholangiopancreatography 83
End-stage obstructive lung disease 508
Energy
balance 452
deficit 19
expenditure 452
input 452
Enhanced protein binding and anion chelation 285
Enzyme
activity testing 52
assay 126
linked immunosorbent assay 478
replacement therapy 52, 162
Eosinophilia 443
Epinephrine 392, 614
hypersecretion 26
Epirubicin 609
Episodes of painful swelling of masses 9
Episodic dystonia 19
Eruptive xanthomas 94
Erythrocyte
sedimentation rate 614
transketolase activity 212
Erythropoietic
porphyrias 310
protoporphyria 311, 312
Erythropoietin therapy 269
Erythtrodontia in congenital erythropoetic porphyria 312f
Escape phenomenon 354
Escherichia coli 523
Esophagitis 473
Estimation of serum electrolytes 347
Ethambutol 171
Ethylene glycol poisoning 439
Eukaryotic topoisomerases 526
Euvolemic
hypernatremia 586
hyponatremia 580
Excessive ingestion of carbohydrates 26
Extracellular
fluid 354, 573, 580, 585
matrix 4, 5
volume depletion 596
Extrahepatic aspects of bilirubin disposition 296
F
Fabry’s disease 53
Familial
cancer syndromes 605
hypercholesterolemia 84
Fanconi’s syndrome 26
Farber’s disease 53
Fasting
blood glucose 404
hypoglycemia 32
plasma glucose 404
Fatigue 118, 333, 549
Fatty
acid oxidation 458
degeneration 448
liver 66, 72
Ferric chloride test 637
Fetal warfarin syndrome 265
Fever 205, 510
Fish tapeworm 231
Flabby subcutaneous tissues 447
Flavin
adenine dinucleotide 164, 213
mononucleotide 213
Fluid replacement 424, 578
Fluorescence in situ hybridization 603
Fluorimetric microparticle technologies 475
Focal
and segmental glomerulosclerosis 543
segmental glomerulosclerosis 555
Folate deficiency 205, 223
Folic acid 220
Follicle stimulating hormone 614
Foot drop 77
Formation of nitric oxide 143f
Forms of
gangrene 105
homocystinuria 140
Fractures 328
Fragile
sites on fragile X chromosome 517f
X syndrome 514, 516
Fragility of red cells 614
Frame shift mutation 515, 516
Free iron toxicity 267
Friedreich’s ataxia 400
Fructosamine 616
Fructose 27
Fructosuria 25, 27
Functions of
growth hormone 337
nitric oxide 144
vitamin E 257
G
Galactose 27
1-phosphate uridyl transferase 39
6-sulfate sulfatase 9
tolerance test 38
Galactosemia 33, 36
Galactosylceramide 53
Gallstones 324
in bile ducts 83
in gallbladder 83
Gamma glutamyl transpeptidase 616
Gangrene of foot 104
Gastrectomy 231
Gastric
bypass surgery 205
secretions 237
Gastrin 130, 615
Gastrointestinal
diseases 522
tract 520, 575
Gaucher’s
and Fabry’s diseases 53
cells 52
disease 5153, 91, 153
Gene
amplification 604f
mapping 325
therapy 162
Generalized fatigue 593
Generation of antibody diversity 535
Genetic testing 118
Genitourinary system 236
Genome of HIV 468, 468
Genotype testing 52
Gestational diabetes mellitus 400
Ghrelin 337
Gigantism 343
Gilbert’s
and Crigler-Najjar syndromes 299
syndrome 298, 570
Glaucoma 418
Glimepiride 420
Glipizide 420
Globotriaosylceramide 53
Globulins 73
Glomerular
filtration rate 537
permeability 552
Glucagon 615
Glucagonoma 406
Glucokinase 399
Gluconeogenesis 458
Glucose 616
6-phosphate dehydrogenase 2123
alanine and Cori’s cycle 459f
homeostasis 31, 398
intolerance 428
oxidase test 637
supply during starvation 458
tolerance test 26, 404
Glucosyl ceramide 53
Glyburide 420
Glycated hemoglobin measurements 405
Glycogen
granules 41f
storage disease 43, 46, 48, 171
Glycolic acid 441
Glycosaminoglycan 4, 6, 7
Glycosuria 26, 403, 443
Goiter 379
Gouty arthritis 653
Gowet’s sign 113
Granulocytopenia 443
Granulomata 570
Granulomatous disorders 279
Graves’
disease 371373
ophthalmopathy 371f
Grey turner’s sign 185
Growth
hormone 336, 614
deficiency 454
releasing hormone 336
retardation 19, 30
Guanosine triphosphate 164
H
Hacking cough 118
Haemophilus influenzae 162
Hair loss 380
Hairy leukoplakia 473
Haptoglobin 616
Hartnup
disease 128
syndrome 218
Hashimoto thyroiditis 374
Headache 333, 394, 549
Hearing loss 116
Heart
defects 9
failure 546
Heat
coagulation test 103
exhaustion 511
intolerance 196
Heavy metals 543
Helicobacter pylori infection 231
Hematin 314
Hematoma 298
Heme synthesis 205, 305
Hemodialysis 205, 500
Hemoglobin 315, 613
electrophoresis 319
H disease 323
Hemolysis 298, 592
Hemolytic
anemia 21, 298
jaundice 653
processes 171
reactions 298
Hemothorax 511
Henoch-Schönlein purpura 552
Heparan
sulfamidase 9
sulfate 6, 9
Heparin 3, 6, 562
and heparan sulfate 5
induced thrombocytopenia 4
Hepatic
copper concentration 293
failure 511
lipase deficiency 94
porphyrias 308
Hepatitis 262
A virus 571
B 552
virus 571
C 552
virus 571
D virus 571
E virus 571
G virus 571
Hepatocellular
disease 301
dysfunction 298
uptake 296
Hepatorenal syndrome 537
Hepatosplenomegaly 324
Hereditary
cholestatic syndromes 298, 301
coproporphyria 309, 310
diseases 543
fructose intolerance 28, 33
hemochromatosis 274, 276, 277
nephropathies 552
nonpolyposis colon cancer 535
renal glycosuria 26
Herpes
simplex 473
zoster 473
Hers’ disease 47
Heterozygous familial hypercholesterolemia 87, 88
Hexosamine pathway 417
HHH syndrome 151
High
anion gap 498, 499
acidosis 497
arched palate 110
density lipoprotein 547
dose dexamethasone suppression test 360
pressure liquid chromatography 319
Highly active antiretroviral therapy 67, 477, 478
Histoplasmosis 473
HIV
associated nephropathy 543
spot 475
Homocysteinemia 138, 653
Homocystinuria 138
Homozygous
alpha thalassemia 323
familial hypercholesterolemia 86
Hormonal
signals 452
tumors 406, 407
Hormone 336
deficiencies 32, 35
replacement therapy 129
Howell-Jolly bodies 315
HPRT deficiency 171
Human immunodeficiency virus 428, 466, 468, 478, 552
Hunter syndrome 9
Huntington’s chorea 400
Hurler’s
disease 8f
syndrome 7, 9
Hutchinson-Gilford progeria syndrome 535
Hyaluronic acid 5, 9
Hyaluronidase 9
Hydrochloric acid 479
Hydrogen breath test 12
Hydrolysis of cyclic adenosine monophosphate 156
Hydroxyurea 609
Hypermobility of joints 110
Hyperactivity of
adrenal cortex 26
anterior pituitary 26
Hypercalcemia 278, 279, 281, 394
Hypercalcemic crisis 278
Hyperchloremic acidosis 497, 498
Hypercoagulable state 553, 554
Hyperemesis gravidarum 205
Hyperglycemia 406, 407, 442, 589
Hyperglycemic
glycosuria 26
hyperosmolar state 415, 416, 421
Hyperhomocysteinemia 140
Hyperkalemia 198, 487, 590, 592
Hyperkalemic familial periodic paralysis 592
Hyperlipidemia 89, 93, 553, 554
Hyperlipoproteinemia 92, 93
Hypernatremia 584, 587
Hypernatremic dehydration 576
Hyperphenylalaninemia 125
Hyperpigmentation 223
of mucous membranes 346f
Hyperpyrexia 442
Hypersplenism 328
Hypertension 171, 198, 427, 538, 558
Hypertensive nephrosclerosis 543
Hyperthyroidism 26, 171, 205, 395, 511, 653
Hypertriglyceridemia 67
Hyperuricemia 70, 165, 429
Hyperventilation syndrome 510
Hypervolemic
hypernatremia 586, 587
hyponatremia 581
Hypocalcemia 285, 287, 572, 589
Hypochromia 325
Hypoglycemia 30, 32, 33, 66, 68, 70, 409, 420, 438
Hypogonadism 454
Hypokalemia 181, 442, 492, 596
Hypolipidemic drugs 90
Hyponatremia 488, 579
Hyponatremic dehydration 576
Hypoparathyroidism 252, 386
Hypoplastic crises 324
Hypotension 442, 443
Hypothalamic obesity 454
Hypothyroidism 171, 181, 454, 506
Hypotonia 38
Hypovitaminosis D 553
Hypovolemic
hypernatremia 585, 586
hyponatremia 580
Hypoxanthine-guanine phosphoribosyltransferase 172, 176
Hypoxia 511
I
Idarubicin 609
Identification of Bence-Jones proteins 103
Idiopathic
thrombocytopenic purpura 473
type 1
diabetes mellitus 401
Iduronate sulfatase 9
Ifosfamide 608
IgA nephropathy 543
Ileal loop 597
Ileitis terminalis 218
Immune-mediated type 1
diabetes mellitus 400
Immunochemiluminometric assays 33
Impaired
absorption 225
bilirubin uptake and storage 298
conjugation 299
cutaneous production 252
enterohepatic circulation 252
glucose tolerance 616
insulin secretion 414
Important functions of vitamin A 244
Inadequate ingestion of Folate containing foods 225
Incidence of xanthomas 94
Increased bilirubin production 298
Indirect
bilirubin 295
immunofluorescence test 475
Infantile
beriberi 204
Refsum disease 75
Tay-Sachs disease 55
Infectious mononucleosis 298
Infiltrative diseases 570
Inflammatory renal disease 26
Inhalational burn 508
Inhaled insulin 409
Injection of diphtheria-pertusis-tetanus 161
Insoluble fiber 463
Insulin
biosynthesis 397
deficiency 592
dependent diabetes mellitus 400
glargine 408
like growth factors 337
pen injector devices 408
pumps 409
receptor disorders 407
resistance 427
syndrome 413, 428
secretagogue 33, 420
therapy in type 2
DM 421
Insulinoma 32, 35, 395, 432, 454
Insulin lispro 408
Intensive care unit 581
Intermediate cystinosis 136, 137
Internal hemorrhage 592
Interpretation of ischemic forearm test results 49
Interstitial
lung disease 511
nephritis 537
Intestinal bacterial overgrowth 262
Intra-and extrahepatic cholestasis 570
Intracellular binding 296
Intracerebral calcification 589
Intracranial hemorrhage 589
Intrahepatic
cholestasis 298, 301
cholestasis of pregnancy 78
Intrauterine growth retardation 35
Intravenous immunoglobulins 108
Iron
binding capacity 616
deficiency anemia 270, 647
metabolism 266
transport 267
Irritable bowel syndrome 129, 461, 462, 465
Ischemia 537
Ischemic
acute tubular necrosis 538
forearm test 49
Islet cell
cytoplasmic antibodies 401
surface antibodies 401
transplantation 409
Isoenzymes of
creatine phosphokinase 182t
lactate dehydrogenase 183
Isolated vitamin E deficiency syndrome 258
Isonatremic dehydration 576
Isoniazid 252, 442
induced niacin deficiency 218
toxicity 442
J
Jaundice 38, 118, 295
Jitteriness 289
Joint pain and stiffness 110
Juvenile TSD 55
K
Kaposi’s sarcoma 473, 474f
Kayser-Fleischer ring 293, 293f
Keratan sulfate 6, 9
Keratitis 529
Keratomalacia 246
Ketoacidosis 498
Ketoconazole 253
Ketonemia 442
Ketones 27
Ketonuria 404, 443
Ketosis 70
Kidneys 575
Kimmelstiel-Wilson syndrome 549
Kinins 575
Klebsiella pneumoniae 523
Klinefelter’s syndrome 400
Korsakoff dementia 207
Krabbe’s disease 53
Kussmaul respiration 416, 423
Kwashiorkor 444, 447, 653
Kyphosis and scoliosis 110
Kyphoscoliosis 505, 508
Kyphosis 9
L
Lactate dehydrogenase 182, 560, 616, 647
Lactic
acidosis 416, 489, 497, 498
dehydrogenase 21
Lactose 27
intolerance 11
Large vessel diseases 420
Laryngeal obstruction 508
Laurence-Moon-Biedl syndrome 400
Lead
intoxication 171
toxicity 26
Lecithin cholesterol acyltransferase enzyme 93
Leg ulcers 324, 328
Leprechaunism 400, 428
Leptin 453
gene 453
Lesch-Nyhan syndrome 172, 176
Leukocytosis 442, 592
Levodopa 27, 171
Lid tumors 529
Liddle syndrome 493
Light sensitivity 123, 442
Limit dextrinosis 47
Lipid storage diseases 53
Lipodystrophy syndromes 400
Lipoprotein 92
lipase 649
Listeriosis 473
Live
attenuated virus 477
recombinant viruses 477
Liver
associated enzymes 211
biochemical tests 302, 302t
biopsy 71, 276, 303
disease 252, 406
dysfunction 38
failure 30
function
enzyme testing 52
test 512, 566, 647
Lomustine 608
Lordotic posture 113
Loss of
appetite 346
balance 77
blood flow 348
colonic secretions 493
gastric secretions 493
heterozygosity 605
hydrogen ions 492
muscle mass 459
sense of smell 77
Low
density lipoprotein 84, 85, 91, 92
cholesterol 84, 88
dose
dexamethasone suppression test 359
salicylates 171
molecular-weight heparin 3, 562
Lucey-Driscoll syndrome 299
Luft’s syndrome 195, 196
Lung 520
carcinoma 367
diseases 522
Lupus erythematosus 552
Luteinizing hormone 614
Lymph node biopsy 474
Lymphoma 298, 473
Lymphoproliferative diseases 171
Lysosomal hydrolase 51
M
Macrocytic anemia 572
Macroglossia 9
Magnesium 617
Magnetic resonance
cholangiopancreatography 186
imaging 99, 503
Main mucopolysaccharidosis 9
Maintenance of
metabolic alkalosis 492
pH 479
Major pathways of DNA repair 531
Malabsorption 252
syndrome 205
Malaise 549
Male pattern baldness 558
Malignant
carcinoid tumor 218
hyperthermia 197
Management of
lactose intolerance 12
low HDL-C 91
nephrotic syndrome 554
type 1
diabetes mellitus 407
2 diabetes mellitus 420
Maple syrup urine disease 141
Marasmic kwashiorkor PEM 448
Marasmus 447
Marker X syndrome 514
Maroteaux-Lamy syndrome 9
Martin-Bell syndrome 514
Maternal phenylketonuria 126
McArdle’s
disease 48
syndrome 47
Mean corpuscular
hemoglobin concentration 613
volume 613
Measurement of
serum bilirubin 302
urine
bilirubin 302
sodium ion concentration 495
Mechanism of
action of
ciprofloxacin 526
digitalis 2
drug 90
novobiocin 526
basic excision repair system 533f
oncogene activation 602
respiratory acidosis 506
secretion of insulin 398f
tumor-suppressor inactivation 605
Mechlorethamine 608
Medullary
cystic disease 543
hormones 393
Megaloblastic anemia 223, 226, 228, 230, 232
Melanocortin receptor mutations 454
Membranoproliferative glomerulonephritis 543
Membranous nephropathy 543, 552
Meningitis 510
Menses 269
Menstrual irregularities 371
Mental retardation 9, 333, 589
Mercury toxicity 26
Metabolic
acidosis 70, 198, 487
alkalosis 598
consequences of proteinuria 553
role of
cobalamin 230
iron 268
syndrome 413, 426
Metabolism of
carbohydrates 11
lipids 63
lipoproteins 92
methanol 502f
nucleotides 161
Metachromatic leukodystrophy 53
Methanol
poisoning 501
toxicity 649
Methemoglobinemia 331, 653
Methods of insulin administration 408
Methotrexate 609
Methylene blue 23
Methylxanthines 511
Microalbuminuria 404, 429
Microcytic hypochromic cells 271f
Microcytosis 325
Micrognathia 9, 110
Migraines 215
Mild
acidosis 546
anemia 215
Minimal change nephrotic syndrome 551, 555
Missense mutation 515
Mitomycin C 609
Mitral valve prolapse 109, 518
Mixed
acid-base disorders 486
hyperbilirubinemia 297, 567
Moderately severe 577
Modes of transmission 469
Molecular structure of cellulose 464f
Monoclonal gammopathy 103f
Morbid obesity 451
Morphine sulfate 563
Morquio syndrome
A 9
B 9
Motor dysfunction 9
MRI of brain 212, 507
Mucopolysaccharidosis 7
Multinucleated syncytial cells 470
Multiple
daily injections 408
endocrine
neoplasia syndrome 394
syndrome 383
myeloma 103f, 538
Muscle
cramps and joint pain 379
disorders 406
jerking 289
rigidity 198
weakness 346
Muscular
dystrophies 505, 508
injury 653
wasting and weakness 196
Myasthenia 505
gravis 508
Mycobacterium
avium complex 473
tuberculosis 473
Myeloproliferative
diseases 171
disorder 538
Myocardial infarction 181, 420, 564
Myoglobin 560
Myoglobinuria 198
Myophosphorylase deficiency 47
Myopia 109
Myotonic dystrophy 400, 406
N
N-acetyl
glutamate synthase deficiency 152
P-benzoquinone imine 436, 437
Nalidixic acid 23, 27
Naphthalene 23
Nateglinide 420
Natowicz syndrome 9
Nausea 346, 394, 442
Neonatal
hypocalcemia 35, 288
jaundice 304
screening for hyperphenylalaninemia 126
Nephrolithiasis 543
Nephropathic cystinosis 136
Nephrosis 26
Nephrotic syndrome 551, 555, 649
Nerve conduction velocity 507
Nervous system 236
Neurological diseases 471
Neuronal degeneration in Tay-Sachs disease 55f
Newborn screening 150
Niacin
metabolism 216
toxicity 219
Nicotinamide adenine dinucleotide 164, 205, 217, 332
Nicotine 511
Nicotinic acid 171
Niemann-Pick disease 53
Night blindness 77, 215
Niridazole 23
Nitric oxide 143
Nitrofurantoin 23
Nodular adrenal hyperplasia 361
Nonalcoholic
fatty liver disease 429
steatohepatitis 429
Nondiabetics glycosuria 407
Nonedematous PEM 447
Nonfunctional enzymes 567
Noninsulin dependent diabetes mellitus 400
Noninsulinoma pancreatogenous hypoglycemia syndrome 33
Non-PKU hyperphenylalaninemia 125
Nonsense mutation 515
Nonspecific tests 474
Nonsteroidal anti-inflammatory drugs 57, 169, 319, 593
Nonsulfonylureas 420
Normal
anion gap 498, 499
acidosis 497
electrolyte balance 575
laboratory reference values 613
parathyroid glands 382f
Nuclear scans 540
O
Obesity 66, 171, 452, 558
Obstructive
jaundice 570, 653
sleep apnea 67, 430
Octreotide 132
Ocular cystinosis 136, 137
Omega 3 fatty acids 91
Oncogenes in human cancer 602
Onset of metabolic alkalosis 492
Oral
fluid HIV tests 476
glucose tolerance test 341, 343, 404t
Organ function tests 536
Ornithine
transcarbamoylase 146148
translocase deficiency 151
Orotic
acid 177f
aciduria 177
Osmolar gap 499, 503
Osmotic demyelination syndrome 583
Osteogenesis imperfecta 115
Osteoporosis 328
Overproduction of uric acid 174
Oxidative stress 417
P
Paget’s disease 171
Pain abdomen 394
Panacinar emphysema 119f
Pancreatic
disorders 407
insufficiency 231
neoplasms 298
polypeptide 130
Pancreatitis 385, 407
Paragangliomas 395
Parathormone 277
Parathyroid
hormone 284f, 386, 615
immunoassay 384
Parenteral
infusion 498
iron 272
therapy 35
Paroxysmal supraventricular tachycardia 395
Partial
bile duct obstruction 570
pressure of
CO2 613
O2 613
thromboplastin time 614
Particle agglutination tests 475
Passive immunization 477
Pathogenesis of
cholera 156
edema 552
α١-antitrypsin deficiency ١١٧
Pathophysiology of
familial hypercholesterolemia 85
lactose intolerance 11
thiamine deficiency 203
von Gierke’s disease 42
Pathway of
anaerobic glycolysis in RBCs 14
purine synthesis 173f
Pectus excavatum 110
Pellagra 217
Pelvic inflammatory disease 473
Pentoxifylline 71
Peptic ulcer disease 385
Percutaneous
coronary intervention 564
liver biopsy 570
Peripheral
arterial disease 416
blood 237
film 24, 224
neuropathy 215, 473
smear 234, 270
vascular disease 420
Peritoneal dialysis 205
Permanent neonatal diabetes 412
Pernicious anemia 231, 235
Persistent generalized lymphadenopathy 471473
Phenacetin 23
Phenazopyridine 23
Phenylketonuria 124, 653
Phenytoin 253
Pheochromocytoma 390, 393, 406, 407
Photophobia 123
Phototherapy in jaundice 303f
Physiologic neonatal jaundice 299
Pierre Robin syndrome 110, 111
Pigmented stones 82
Pineal hypertrophic syndrome 428
Pituitary
adenoma 338, 360
diseases 379
gland’s failure 355
hypothalamic dysfunction 359
Plasma
aldosterone concentration 355
bicarbonate levels 512
concentration of
potassium 351
sodium 351
C-peptide 34
renin activity 349, 495
Plasmapheresis 77
Plasmodium falciparum 316
Platelet
aggregation inhibitors 563
count 319, 474
Pneumoconiosis 505, 508
Pneumocystis jiroveci pneumonia 473
Pneumonia 443, 473, 511
Pneumothorax 511
Poliomyelitis 505, 508
Polycystic
kidney disease 171, 543
ovarian disease 429
ovarian syndrome 454
Polycythemia vera 171, 269
Polymerase chain reaction 325, 565
Polyphagia 196
Polyurea 394
Pompe’s disease 47
Poor
feeding 19
muscle tone 19, 379
oral hygiene 558
Porphyria cutanea tarda 307, 309
Positive stool guaiac 647
Positron emission tomography 99
Post hepatitis hyperbilirubinemia 298
Posthypercapnia 493
Postinfectious glomerulonephritis 543
Postprandial hypoglycemia 33
Postrenal ARF 538
Potassium 397, 617
Prader-Willi syndrome 400
Predominant indirect-reacting bilirubin 298
Pregnancy complications 226
Prehepatic jaundice 653
Prerenal
acute renal failure 537, 538
azotemia 487, 537, 572
Prevention of
DKA 424
primary manifestations of hyperammonemia 152
Primaquine 23
Primary
adrenal insufficiency 345
carnitine deficiency 64
compensatory mechanism 498
glomerular diseases 543
hyperaldosteronism 495
hyperlipoproteinemia 93
hyperparathyroidism 382
lactose intolerance 12
nephrotic syndrome 551
PEM 446
Principal causes of hypernatremia 586
Procarbazine 609
Proenzyme convertase 1
mutations 454
Profound acidosis 334
Progesterone 511
Progression of liver and kidney failure 30
Progressive
familial intrahepatic cholestasis 298, 301
multifocal leukoencephalopathy 473
Prolonged diarrhea 218
Prostatic disease 543
Protein
energy malnutrition 445, 450
kinases 156
loss 554
metabolism 120
Proteinuria 488, 552
Prothrombin time 72, 73, 614
Protoporphyrin 307
Protoporphyrinogen oxidase 307
Proximal muscles 113
Pseudohyperkalemia 592
Pseudohypertrophy 113
Pseudohypokalemia 598
Pseudohyponatremia 581
Pseudohypoparathyroidism 387, 389, 454
Pseudomonas aeruginosa 523
Pseudorespiratory alkalosis 511
Psoriasis 171
Psychosocial stress 558
Pulmonary
disease 366, 367
edema 511
function testing 507
infarction 298
Pure
salt depletion 576, 578
water depletion 576
Purine
nucleotide catabolism 164f
rich diet 171
Pyrazinamide 171
Pyridium 23
Pyruvate
dehydrogenase complex 1721
kinase deficiency 1315, 17
Q
Quinine 23
Quinolones 523
R
Rabson-Mendenhall syndrome 400, 428
Radiation therapy 342
Radio immunoprecipitation assay 475
Radioactive iodine uptake 355, 372, 377
Radioimmuno precipitation assay 475
Radiolabeled copper 293
Random
blood
glucose 404
sugar 397
urine sodium 634
Rapid
breathing 19
eye movements 123
tests 475
Reactions of urea cycle 146
Recombinant DNA products 477
Recording body weight 430
Recto sigmoid adenocarcinoma 648
Recurrent
nephrolithiasis 133
vomiting 30
Recurring respiratory infections 118
Red
blood count 613
cell transfusion 272
Redistributive hyponatremia 581
Refsum’s disease 76, 78
Regulation of
calcium metabolism 283
cholesterol synthesis 89
heme biosynthesis 306
Renal
acid handling 482
artery stenosis 543
biopsy 540, 554
causes of glucose in urine 26
excretion of bilirubin conjugates 296
failure 198, 199, 252, 497, 498, 653
function test 198, 554
glycosuria 26
insufficiency 171
tubulopathy 30
Renin angiotensin
aldosterone system 352
system 351
Renovascular
hypertension 395, 493
obstruction 537
Respiratory
acidosis 201, 505, 509
alkalosis 511, 653
rate 642
Resting tachycardia 196
Restriction endonucleases 325
Reticulocytes 613
Retinal
degeneration 9, 109
injury 246
Retinitis pigmentosum 77
Reverse
transcriptase inhibitors 476
triiodothyronine 615
Revised classification system for HIV infection 472t
Rhabdomyolysis 171, 199, 498, 592
Riboflavin
deficiency 214
metabolism 213
Ribonucleic acid 467
Rickets 653
Risk factors for
neonatal hypocalcemia 288
type 2
diabetes mellitus 414
Role of
adrenal cortical hormones 344
aspirin 61
cobalamine in
DNA synthesis 230
methionine metabolism 231
dietary fibers 462
folic acid 610
in DNA synthesis 609
in nucleotide synthesis 221
in purine synthesis 610
in transmethylation reactions 222
G6PD in glucose metabolism 22
hemoglobin 481, 481f, 482f
heparin 3
proteoglycans 6
Rothmund-Thomson syndrome 535
Rotor’s syndrome 298, 300
Routine liver tests 299
S
S-adenosyl homocysteine hydrolase 162
Salicylate toxicity 200
Salmonella septicemia 473
Salt substitutes 593
Salvage pathway 174
Sandhoff disease 54
Sanfilippo syndrome
A 9
B 9
C 9
D 9
Sarcoidosis 171, 298
Scheie syndrome 8
Schilling test 237
Schmidt’s syndrome 345
Sclerosing cholangitis 298
Scoliosis 113, 518
Screening
for diabetic nephropathy 550
tests and supplemental tests 475
Secondary
adrenal insufficiency 347
cancers 471
causes of
hyperglycemia 406
obesity 454
hyperlipidemia 94
hyperparathyroidism 383
infectious diseases 471
lactose intolerance 12
nephrotic syndrome 552
PEM 446
Secrete parathyroid hormone 383
Sepsis 511
Serotonin 130
Serum
albumin 72, 315, 487, 633, 638
amylase 503
bicarbonate 487, 634
bilirubin 38, 70, 567, 641
calcium 384, 487, 642
ceruloplasmin 292
chemistries 506, 512
chloride 487, 634
cholesterol 380
creatinine 438, 487, 642
electrolytes 499, 512, 628
enzymes in liver diseases 567
ferritin 633
fructosamine 405
globulins 569, 633
glucose 487
glutamate oxaloacetate transaminase 181
inorganic phosphorus 642
iron 271, 315, 633
K measurement 593
ketones 397
osmolality 440, 503
phosphate 384
potassium 487, 594, 634
prolactin 377
proteins 70
sodium 73, 377, 487, 634
total
and differential protein 554
cholesterol 638
proteins 617, 633, 638, 642
transaminases 38
uric acid 634, 642
Severe
anemia 511
asthma 508
combined immunodeficiency 161
hyperactivity 9
hypermetabolism 196
obesity 451
skeletal dysplasia 9
Sexual contact 469
Short bowel syndrome 262
Shortness of breath 333
Shoshin beriberi 204
Sickle
cell
anemia 316
disease 315317
nephropathy 543
solubility test 319
Sickled red blood cells 317f
Silent mutation 515
Single
photon emission computed tomography 99
strand breaks 535
Skeletal dysplasia 9
Skin
biopsy 529
fibroblasts culture 529
pigmentation 642
Slender tubular bones 110
Sluggish reflexes 380
Sly syndrome 9
Sodium 397, 617
balance 575
cyanide nitroprusside test 134
excretion 576
Soluble fiber supplements 463
Somatostatinoma 407
Specific hypoglycemic states 34
Sphigomyelin 53
Sphingolipidosis 53
Sphingomyelinase 53
Spirochetal infections 298
Spironolactone 354
Splenectomy 52
Staphylococcus aureus 162
Starvation ketosis 171
Stem cell therapy 114, 410
Steps of
degradation of catecholamines 391f
formation of catecholamines from tyrosine 390f
heme synthesis 305f
Steroid resistant 552
Stickler syndrome 109, 110, 110f
Stimulation of renal ammonia genesis 492
Stomach 615
Stool acidity test 12
Storage of
cobalamin 229
iron 268
Streptococcus pneumoniae 162, 318
Structural characteristics of HIV 467
Structure of
HBA 316f
heme 332f
human immunodeficiency virus 467f
nicotinamide 216f
nicotinic acid 216f
phytanic acid 76f
proteoglycans 6
riboflavin 214
tetrahydrofolate 221f
vitamin A 243f
Sub-acute thyroiditis 379
Subclinical hypothyroidism 381
Submucous cleft palate 110
Succinylcholine 592
Sulfadiazine 23
Sulfadimidine 23
Sulfamethoxazole 23
Sulfasalazine 23
Sulfisoxazole 23
Sulfogalactosylceramide 53
Sulfonylurea 33, 420
Summary of
causes of
iron deficiency 269
respiratory acidosis 508
pathogenesis of cholera 160
Supplemental vitamin B12 237
Suppression tests 433
Sweat gland 521
Symptoms of
acquired methemoglobinemia 333
fragile X syndrome 517
heart failure 1
inappropriate antidiuretic hormone 365
Syndrome X 413
Synthesis of vitamin D 250
Synthetic peptides 477
Systemic glucose balance 32
T
T cell subset assays 474
Tachycardia 198, 394, 442
Tachypnea 198
Tamoxifen 67
Target cells 325
Tarui’s disease 47, 48
Tay-Sachs disease 5355, 55f, 635
Tertiary hyperparathyroidism 280, 383
Thalassemia 322
intermedia 326, 328
major 326, 330
minor 326
Thallium scanning 561
Thiamine 203, 207
pyrophosphate 18
Thiazolidinediones 421
Thrombocytopenia 73, 438, 443
Thrombocytosis 592
Thyroid
autoantibodies 377
growth immunoglobulins 370
replacement therapy 380
scan 380
stimulating
hormone 369, 379, 614
immunoglobulins 370
Thyrotropin binding-inhibiting immunoglobulins 370
Thyroxin binding globulin capacity 615
Tip toe walking 113
Tirofiban 563
Titratable acidity 483
Tolazamide 420
Tolbutamide 420
Total
bilirubin 295
body water 573, 580
creatine kinase 616
iron-binding capacity 271
leukocyte and lymphocyte count 474
serum
bilirubin 299
protein 72
Toxemia of pregnancy 171
Toxic
injury 508
renal tubular disease 26
Toxoplasmosis of brain 473
Transcobalamine II deficiency 232
Transient ischemic attacks 61
Treating
hypertension 431
insulin resistance 430
Treatment of
acute attacks 169
eye disease 373
hypoglycemia 35
impaired fasting glucose 431
metabolic syndrome 430
Trichothiodystrophy 535
Triiodo thyronine 615
Troponin 560, 616
Trousseau sign 388
Truncal obesity 407
Tuberculosis of GI tract 218
Tuberous xanthomas 93, 95f
Tubo-ovarian abscess 473
Tubulointerstitial nephritis 543
Tumor suppressor genes 602, 607
Turner’s syndrome 400
Types of
autoantibodies 401
diabetes mellitus 412
DNA damage 531
glycosuria 26
hyperbilirubinemia 297, 298, 298t
hypoglycemia 32
lactic acidosis 489
mucopolysaccharidosis 9
mutations 514
thalassemia 322
U
Umbilical cord blood transplantation 8, 10
Unconjugated hyperbilirubinemia 297, 298, 301, 567
Unintentional weight loss 118
Urea cycle disorders 146
Uric acid 27, 174f, 328, 620
Uridine diphosphate 37
Urinary
chlorides 495, 638
copper excretion 293
retention 442
Urine 367
analysis 128, 198, 353, 364, 539
bilirubin 302, 567
electrolytes 539
protein 72
tests 476
toxic drug screen 211
urobilinogen 302
Uroporphyrinogen decarboxylase 307
Use of calcium channel blockers 563
Utilization of iron 268
V
Vanillylmandelic acid 614
Variegate porphyria 307, 310
Vascular diseases 543
Vasoactive intestinal polypeptide 130
Venipuncture technique 592
Vinblastine 609
Vincristine 609
Viral
hepatitis 565, 652
infections 552
transcription 470
Vision loss 502
Vitamin 203
A 243
deficiency 244, 245
toxicity 248
C 27, 239, 240
D 250
deficiency 251, 252, 286
intoxication 653
receptor mutation 253
supplements 545
toxicity 254
E 256
deficiency 257
toxicity 259
K
analoges 23
antagonists 264, 264f
metabolism 260
Vitreous degeneration 109
Vomiting 346, 442, 447, 597
von Gierke’s disease 40, 47, 48
W
Wasting
disorders 446
syndrome 473
Watson-Schwartz test 313
Weight
loss 346, 370, 394, 448, 462
reduction 420
Werner syndrome 383, 428, 535
Wernicke
encephalopathy 207
Korsakoff syndrome 207, 210
Western blot test 475
Whipple’s triad 33
White blood
cell 185
count 613
Wilson’s disease 291, 293f
Wolfram’s syndrome 400, 412
X
Xanthomas 92, 93
Xeroderma pigmentosum 528, 535
Xerophthalmia 246
X-linked
hypophosphatemic rickets 253
sideroblastic anemia 307, 310, 311
Z
Zellweger syndrome 75
Zinc 617
Zollinger-Ellison syndrome 383
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Chapter Notes

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Chemistry of Carbohydrates1

 
CASE STUDIES
3