INDEX

Abortion, 116 Acetic acid derivatives, 164 Acid hematoporphyrin, 3, 213 Action spectrum of porphyrins, 174 Acupuncture, 105 Acute porphyria

acute attacks, 119 classification, 9, 13 clinical and biochemical classification, 73 clinical features, 71 drugs, 98 electro diagnostic findings, 120 enzymic classification, 13, 16 GABA,124 histamine release, 124 historical description, 11 incidence, 17 infection, 114 management and treatment, 101 porphyrin profiles, 69 precipitating factors, 98 pregnancy, 79, 100, 112, 115 prevention of attacks, 114 tryptophan metabolism, 133

Acute porphyria in animals, 262 Acute intermittent porphyria, 76

abdominal pain, 77 antipyrine clearance, 134 cardiovascular manifestations, 83 case histories, 79, 110 clinical features, 71, 77 gastrointestinal features, 81 incidence, 17, 76

Acute intermittent porphyria (COllt.)

infection, 114 monopyrroles, 91, 130 nausea and vomiting, 105 psychiatric aspects, 84 renal manifestations, 83 respiratory function, 112 treatment, 80, 101, 111

Adenosine monophosphate, 116, 225 a-Adrenergic receptors, 124 Age of onset

of acute porphyria, 76 of cutaneous hepatic porphyria, 189 of congenital porphyria, 218 of erythropoietic protoporphyria, 202

ALA dehydratase, 26, 133,287 chromosomal location, 27 deficiency, 122 measurement of activity, 56 mechanistic sequence, 27 succinyl acetone inhibition, 27 and zinc, 28

ALA synthase, 23, 141 and aging, 143 in the brain, 132 in congenital porphyria, 216, 225 diagnostic aid, 284 function, 23 half life, 24 in the Harderian gland, 259 induction by amitriptyline, 164 and lead, 286 measurement of activity, 56

363

364

ALA synthase (cont.)

primary control of heme synthesis, 26, 282

repression by hematin, 136 and steroids, 157 synthesis in plants, 25

Alclofenac, 164 Alcohol, 190, 240; see also Ethanol and

acute porphyria Aldosteronism, 91 Alicante wine-red urine, 18 Alkaptonuria, 224 Allopurinol, 164 Allyl compounds, 133, 144 Allyl isopropyl acetamide, 123, 132, 139,

281 first use, 8

Alphaxolone/alphadalone, 101 Aluminum, 239 Aminoacetone synthesis, 26 p-Aminobenzoic acid, 39, 225 a amino (3 keto adipic acid, 25 5-Aminolevulinic acid (ALA)

behavioral effects, 122 blood-brain barrier permeability, 122 capillary dilatation, 123 in congenital porphyria, 216 experiments in congenital porphyria, 269 hypotensive effect, 123 neurotoxicity, 121 renal excretion, 83

Aminopyrine-N-demethylase, 144 Amitriptyline, 164 Amniotic fluid in congenital porphyria, 224 Amoxycillin, 162 Analgesics and antiinflammatory drugs,

163 Androgens in the Harderian gland, 259 Anemia

heme biosynthesis, 227 secondary, 232 sideroblastic anemia and

5-aminolevulinate synthase (ALA. S), 42, 229

Anesthetics, 161 Aniline hydroxylase, 144 Animal porphyria, 257

tumors, 176 Anisocytosis, 221 Anterior horn cells, 120 Anthranilic acid derivatives, 164

Antibiotics, 162 Anticonvulsants, 107 Antidiuretic hormone, 107 Antimalarials, 154 Antipyrine clearance, 134, 137 Aspirin, 163 Atropine, 161 Autoimmune disease, 195 Axonal degeneration, 119

Bacterial porphyrins, 257

INDEX

Bantu porphyria, 19; see also Cutaneous hepatic porphyria (CHP)

Barbiturates, 4, 144, 161 Benzodiazepines, 155, 163 Benzothiadiazides, 164 Beta blockers, 106, 165 Beta carotene, 209 Biliary porphyrin, 208 Bilirubin, 36

conjugation, 37 in Gilbert's syndrome, 248 inhibition of porphobilinogen deaminase

(PBG-D),30 in Rotor syndrome, 247 synthesis, 37

Bilirubin oxidase, 37 Biliverdin,

enzyme complex, 36 synthesis, 35

Biliverdin reductase, 37 Biochemical features of acute porphyria, 80,

90 of hereditary coproporphyria, 97 of variegate porphyria, 93

Blindness, 223 Blood-brain barrier, 122 Bone marrow erythroblasts, 41

transplantation, 225 Bone porphyrins, 275

in congenital porphyria, 222 Boron-substituted porphyrins, 176 Bovine hereditary protoporphyria, 272 Bovine porphyria, 262, 263, 273

in England, South Africa, and the U.s.A., 265

Breeding of bovines in South Africa, 267 in porphyric swine, 274

Bronze baby syndrome, 254 Bupivacaine, 161

INDEX

Burgundy-red urine, 18, 213, 219 Burning sensation in skin, 202

Calcium channel blockers, 164 Cancer, 288

uptake of porphyrins, 171 Candida gui/liermondii, 273 Canthaxanthin, 117, 211 Capillary dilatation by 5-aminolevulinic

acid (ALA), 123 Carbohydrate loading, 103, 108, 111, 115 Carbamazepine, 47, 157 Cardiac complications of acute porphyria,

114 Carotenes, 117 Case histories, 79, 110 Castration, 259 Cat porphyria, 276 Cataract, 223 Catecholamines, 91 Cattle, congenital porphyria in, 6, 263 Cell culture of nerves, 122

effects of drugs, 148 Cerebellum degeneration 01 axis cylinders,

120 Cerebrospinal fluid (CSF) in acute

porphyria, 91 5-aminolevulinic acid (ALA) and

porphobilinogen (PBG) content, 122 Charcoal, 225 Charolais cattle, porphyria in, 273 Chelation therapy, 116 Chemistry of porphyrins, 2 Chemicals, porphyrinogenic, 139 Chester porphyria, 94 Chloral hydrate, 163 Chloramphenicol, 162 Chlordiazepoxide, 163 Chloroquine treatment of congenital

porphyria, 225 in cutaneous hepatic porphyria, 197

Cholelithiasis, 221 Cholestasis, 211 Cholestyramine,210 Chromatolysis, 120 Circadian rhythm in porphyrin synthesis,

40 Cis-platin, 165 Classification of porphyria, 9

of cutaneous hepatic porphyria, 179 current, 12

Classification of porphyria (cant.) enzymic features, 13 historical, 9

Clinical features of erythropoietic protoporphyria, 202

Coal porphyrins, 257 Coloration of viscera, 263 Combined drug preparations, 156, 165 Complement, 170, 208 Concurrent porphyria, 94 Congenital porphyria

365

5-aminolevulinic acid synthase (ALA. S), 216

biochemical features, 215 bones and teeth, 222 bovine, 264 carrier state in bovines, 269 differential diagnosis, 224 enzymic lesions, 15 erythrodontia, 223 eye, 223 fluorocytes, 221 hematological features, 221 heredity, 214 "in utero", 218 liver, 223 onset, 219 pathogenesis of cutaneous lesions, 220 photobiology, 168 PBG deaminase, 215 porphyrin profiles, 70 prognosis and treatment, 224 skin manifestations, 219 uroporphyrinogen cosynthase, 215 uroporphyrinogen decarboxylase, 216

Conformation of steroids, 157 Contraceptive pill, 98, 157, 189 Control of heme synthesis, 9, 38

role of 5-aminolevulinate synthase (ALA. S), 38

Convulsions in acute porphyria, 106 Coomb's test, 222 Copper-complexed porphyrins, 6, 66,280 Coproporphyrin, 96, 277 Coproporphyrin I, 264, 269 Coproporphyrinogen oxidase, 32

chromosomal location, 32 in hereditary coproporphyria, 97 mechanism of action, 32

Crystals of porphyrin, 205 Cutaneous hepatic porphyria (CHP), 179

366

Cutaneous hepatic porphyria (CHP) (COllI.)

autoimmune disease, 195 and ethanol, 190 classification, 282 in bovines, 262, 273 chronic renal failure, 192 chloroquine, 197 contraceptive pill, 189 dioxin, 194 hemodialysis, 192 hexachlorobenzene, 193 hormones, 189 iron overload, 187 liver disease, 186 management, 196 photobiology, 168 plasma porphyrin, 171 polyhalogenated hydrocarbons, 194 porphyrin profiles, 69 skin features, 183 tumors, 195 use of p-aminobenzoate, 128 venesection, 196 X-porphyrin or porphyrin peptides, 59

Cyclopropane, 161 Cytochrome oxidase, 45, 134 Cytochrome P-450, 133, 140, 144, 175 Cytoplasmic organelles, 170

Dehydroepiandrosterone, 101, 140, 157 Delta-4,5a-reductase, 157 Demyelination, 119, 127 Denmark

swine porphyria, 274 Dentine, porphyrin deposition, 223 Depolarization of muscle, 124 Dermal changes, 170 Desferrioxamine, 225 Deuteroporphyrin, 171 Dexamethasone, 159, 160 Dextrose, 111, 115, 161 Diabetes, 254 Diagnosis of acute porphyria, 88 Diazepam, 163 Dichloralphenazone, 163 Diethoxycarbonyl-dihydrocollidine (DOC),

8, 132, 139, 154, 283 inhibition of ferrochelatase, 35

Differential diagnosis of acute porphyria, 70, 98, 224

Dihematoporphyrin ether or ester, 171,288

INDEX

Dihydropyridines, 142 Diltiazem, 164 p-Dimethylaminobenzaldehyde, 129

porphobilinogen reaction, 7 Dioxin, 194; see also

Tetrachlorodibenzodioxin (TCDD) 4,5-Dioxovalerate, 25 4,6-Dioxoheptanoic acid, 123; see also

Succinylacetone Dipyrroles, 130 Dipyrrylmethane, 130 Diuretics, 164 Drugs and acute porphyria, 139, 144

lists, 146 structures of porphyrinogenic drugs, 140

Dual porphyria, 199 Dubin-Johnson syndrome, 247

Ectropion, 223 Eggs, 257 Ehrlich's reagent, see

p-Dimethylaminobenzaldehyde Electrodiagnostic findings in acute

porphyria, 120 Electroencephalogram (EEG) in acute

porphyria, 81 Electrolyte balance, 107

abnormalities in acute porphyria, 90 Electromyogram, 121 Electronmicroscopy of Harderian gland,

260 of skin, 170

Electrophoresis, 66 Endoscopic probe, 173, 176 Enflurane, 161 English bovine porphyria, 165, 268 Enzymes of heme biosynthesis, 24

in acute porphyrias, 75, 98 chromosomal location, 284 measurement, 55

Enzyme replacement therapy, 286 Epilepsy, 107, 163 4,5-Epoxy-2-isopropyl pentonoate, 141 Erythrocyte fragility, 225 Erythrodontia, 223 Erythroid porphyrin synthesis, 206

control of, 41 in erythroleukemia cells, 41

Erythropoiesis, 225 Erythropoietic protoporphyria (EPP), 201

biochemistry, 205

INDEX

Erythropoietic protoporphyria (EPP) (cont.)

diagnosis, 208 ferrochelatase in, 202 hepatic features, 207, 210 incidence, 201 liver in, 204 photobiology, 168 porphyrin profile, 70 skin changes, 202 treatment, 209

Estrogens, 99, 159, 189 Estrus cycle, 262 Ethanol and acute porphyria, 99

in cutaneous hepatic porphyria, 190 and heme biosynthesis, 240 and hematoporphyrin derivative (HPD)

therapy, 174 and erythropoietic protoporphyria, 210

Ether, 161 Etiocholanolone, 157 Etomidate, 155, 161 Extraction of porphyrins, 57 Extrahepatic porphyrin synthesis, 131 Eye, in congenital porphyria, 223

Feathers, 257 Fenoprofen, 164 Fentanyl, 161 Ferrochelatase, 33

deficiency in mycosis porphyria, 274 description of iron incorporation, 9 drug testing, 148 in erythropoietic protoporphyria, 202,

206 inhibition by N-alkylated porphyrins,

141,176 iron requirements, 33 lipid requirements, 35 measurement of activity, 56 role of sulphydryl groups, 34 in variegate porphyria, 94

Fingernails in congenital porphyria, 219 Fischer, historical studies, 5, 214 Fluid balance, 107 Flunitrazepam, 163 Fluorescence of porphyrins, 47, 50, 168

in bullae, 219 of skin, 204

Fluorocytes, 214, 221 Flurbiprofen, 164 Fluroxene, 161

Folate requirement by porphobilinogen

deaminase (PBG-D), 30 neuropathological effects, 127

Friend cell heme synthesis, 41 Frog gastrocnemius muscle, 124 Fungicide, 281

367

Gamma amino butyric acid (GABA), 124, 238

Gastrointestinal manifestations of acute intermittent porphyria (AlP), 81

Geeldikop, 263 Gel filtration, 67 Genetics of porphyria, 17, 75, 78, 95, 114 Geographical distribution of porphyria, 17 Geological sources of porphyrins, 257 George III, 19 Gerbil,261 Gilbert's syndrome, 248

and protoporphyrinogen oxidase, 33 Glucuronic acid, conjugation of bilirubin,

37 Glutamate

and synthesis of 5-aminolevulinic acid (ALA),25

as a neurotransmitter, 124 Glutathione-S-transferase, 175; see also

Ligandin Glycine, 39

and 5-aminolevulinate synthase (ALA. 5),25

Complex with p-aminobenzoate, 39 as a control point, 39 depletion, 128 historical use of 15N, 8

Glycine acyl transferase, 128 Gold,238 Golden hamster, 259 Golgi complex, 262 Gout, 164 Griseofulvin, 8, 140, 162 Ground state of porphyrins, 168 Guanylate cyclase, 131 Gunn rat

and protoporphyrinogen oxidase, 33 GUnther's disease, see Congenital

porphyria

Hematoporphyria congenita, 11 Hair, 277

368

Halogenated aromatic hydrocarbons, 142 Halothane, 161 Harderian gland, 259 Harderoporphyria, 33, 97 Harderoporphyrin, 32, 97, 258 Heat and hematoporphyrin derivative

(HPD) therapy, 174 Hematin, 108, 112, 115, 132, 136

renal complications, 109 treatment of congenital porphyria, 225 treatment of erythropoietic

protoporphyria, 210 venous thrombosis, 110

Hematological changes in acute porphyria, 90

Hematopoietic disorders, 227 Hematoporphyrin, 171

acid hematoporphyrin, 3,213 early description,S Meyer-Betz, experiments, 11 synthesis of hematoporphyrin derivative

(HPD),171 Hematoporphyrin derivative (HPD), 171,

288 pharmacological effects, 130

Heme, 34 deficiency and neurobiochemistry, 45,

121, 136 degradation and aging, 143 oxygen transport and oxidation, 21 pool, 132

Heme arginate, 110 Heme biodegradation, 35

in congenital porphyria, 216 Heme biosynthesis, 8, 16, 23

in anemias, 227 in bronze baby syndrome, 254 in changes in the porphyrias, 16,282 in cutaneous hepatic porphyria, 179 in diabetes, 254 in Dubin-Johnson syndrome, 247 in erythropoietic protoporphyria, 206 in Gilbert's syndrome, 248 in hemopoietic disorders, 227 in hemolytic anemia, 233 in hereditary tyrosinemia, 251 in iron deficiency anemia, 227 in lead poisoning, 60, 71,234 in leukemia, 234 in liver disease, 246 in liver tumors, 249

Heme biosynthesis (cont.)

in malabsorption, 253 in metal poisoning, 238 in polycythemia, 234 in porphyrias, 16,282 in pregnancy, 254 in psychiatric disorders, 84, 253 in renal disease, 252 in rotor syndrome, 247 in schistosomiasis, 254 in secondary anemias, 232 in sickle cell anemia, 233 in sideroblastic anemia, 229 in thalassemia, 233

Heme oxygenase, 35, 133 Heme synthase, see Ferrochelatase Hemin, see Hematin Hemochromatosis, 189 Hemodialysis, 116, 192

INDEX

in cutaneous hepatic porphyria, 192 Hemolytic anemia, 233 Hemopexin, 44 Hemophilus meningitis, 162 Hemopyrrole, 43, 129, 285 Hepatic features of erythropoietic

protoporphyria, 201, 210 tumors, 249

Hepatobiliary changes, 204 Hepatoerythropoietic porphyria, 198 Hepatotoxins in cutaneous hepatic

porphyria, 193 Hereditary coproporphyria, 33, 95, 224

antipyrine clearance, 134 clinical features, 71 incidence, 17, 77 initial description, 95 skin features, 72, 97

Hereditary tyrosinemia, 45, 47, 71, 123, 251

porphyrin and enzyme changes, 60 Heredity of porphyria, 13, 14, 75; see also

Genetics of porphyria of bovine porphyria, 264, 267 in erythropoietic protoporphyria, 201 of swine porphyria, 274

Hexachlorobenzene, 139, 142, 193, 281 High-pressure liquid chromatography

(HPLC), 63 porphyrin profiles, 68

Hippurate, 128 History, 1, 279

INDEX

Histamine secretion, 124, 176 Human immunodeficiency virus (HIV), 110 Holstein cattle porphyria, 266 Homozygous porphyria, 97, 224 Hoppe Seyler, 3, 213 Human lymphocyte antigen (HLA), 189 "Hydroa aestivale," 219 Hydrophilic properties of porphyrins, 170 Hydroxyhemopyrrolin-2-one, 129 Hydroxymethylbilane, 30 Hydroxymethylbilane synthase, see

Porphobilinogen deaminase (PBG-D)

Hydroxyl radical, 175 5-Hydroxyindoleacetic acid, 133 5-Hydroxytryptamine, 133 Hyperbilirubinemia in acute porphyria, 91 Hypercalcemia, 91 Hypercholesterolemia, 91 Hypericin, 263 Hyperkeratosis, 202 Hypertension in acute porphyria, 106, 114,

120 Hyperthermia and hematoporphyrin

derivative (HPD) therapy, 174 Hypertrichosis, 219 Hypnotics, 163 Hyponatremia, 90 Hypothalamic disturbance, 90

Ibuprofen, 164 Icterogenin, 263 Identification of porphyria, 17

of unsafe drugs, 145 Imipramine, 164 Immunological cross reaction of

porphobilinogen deaminase (PBG­D),87

Immunological disorder, 195 Inborn errors of metabolism, 1, 11 Incidence of porphyria, 17 Indium-labeled porphyrins, 176 Indomethacin, 163 Infection in acute porphyria, 114, 162 Inheritance of porphyria, 14, 17, 75

of cutaneous hepatic porphyria, 179, 181 of congenital porphyria, 214 of erythropoietic protoporphyria, 201

Inosine, 225 Intersystem crossing, 168 Iron, 280

Iron (COllt.)

in cutaneous hepatic porphyria, 187 in erythropoietic protoporphyria, 206,

210 and hexachlorobenzene (He B)

porphyria, 143 Overload, 187,225

Iron-deficiency anemia, 227 porphyrin and enzymic changes, 60

Iron -free hematin, 3 Isocoproporphyrin, 30, 218 Isoharderoporphyrin, 33 Isomers of porphyrins, 28, 272

in congenital porphyria, 217

Jamaica, bovine porphyria, 266 Jaundice,

neonatal and tin and chromium protoporphyrin, 37

in erythropoietic protoporphyria, 204

Ketamine, 155, 161 Ketoprofen, 164 Kidney in acute porphyria, 83

porphyrin synthesis, 40, 83,252 Kryptopyrrole, 42, 129 Kupffer cells, 205

Lasers, 173 Late onset congenital porphyria, 219 Latent porphyria, 7, 283

screening of relatives, 98 Lead, 234

369

and 5-aminolevulinic acid (ALA), 45 5-aminolevulinic acid (ALA) dehydratase

inhibition, 286 clinical features, 71 comparison with erythropoietic

protoporphyria, 207 enzyme replacement therapy, 286 and plumboporphyria, 97 as a porphyrinuria, 47 poisoning, 234

similarity to acute porphyria, 123 Leukemias, 234 Levulose therapy, 111 Ligandin, 44, 175 Light absorption, 169, 174

and hematoporphyrin derivative (HPD), 131,173

370

Lignocaine, 162 Lipophilic properties of porphyrins, 170 Liver, function in acute porphyria, 91

abnormal porphyrin metabolism, 246 in cutaneous hepatic porphyria, 186 in congenital porphyria, 223 disease, 186, 246 in erythropoietic protoporphyria, 204 porphyrins, 143 transplantation in erythropoietic

protoporphyria,211 Local anesthetics, 162 Lorazepam, 163 Lung cancer, 176 Luteinizing hormone-releasing hormone

(LHRH), 115, 159 Lycanthropy, 19 Lysosomes, 175 Lytic enzymes, 175

Magnetic circular dichroism (MCD), 67 Malabsorption, 253 Malaria, 162 Management, of acute porphyria, 101

of cutaneous hepatic porphyria, 196 of congenital porphyria, 224 of erythropoietic protoporphyria, 209

Manganese, l33 Marrow in congenital porphyria, 225 Mast cells, 259 Measurement of porphyrins, 51

of heme biosynthetic enzymes, 55 Mefenamic acid, 164 Melanin, 277 Melphalan, 165 Membrane fluidization, 145, 157 Membrane transport of porphyrins, 42 Mendelian recessive inheritance, 214 Menstruation, 99, 115, 159 Meriones unguicu!atus, 261 Metals, 238 Metastasis, 176 Methoxyflurane, 161 N-Methyl protoporphyrin, 142, 283 Mg-ATPase, l31, 176 Michigan bovine porphyria, 266 Micromethods, 54 Mitochondrial membrane synthesis, 135 Monooxygenases, see Cytochrome P-450, Monopyrroles, 42, 129, 285

in acute porphyria, 91 Morphine, 161

INDEX

Motor conduction velocity (MCV), 121 Mouthwash, 165 Muscle weakness, 120 Mutilation of the skin, 224

NADH oxidation, l34 N-alkylation of heme, 141 Naproxen, 163 Nausea, 105 Neoplasm, 171, 176,287 Nerve conduction, 120 Neurobiochemistry of the acute porphyrias,

44 role of 5-aminolevulinic acid (ALA), 44 pyridoxal phosphate, 45

Neurological manifestations of acute porphyria, 81, 107

biochemical basis, 90 induced by drugs, 112, 156

Neuropathology of acute porphyria, 119, 127

Neurosis in acute porphyria, 84 Neurotoxicity of 5-aminolevulinic acid

(ALA),125 Neurotransmitter release, 125 Neutron capture, 176 Nevoid-cell basal carcinoma, 176 Nifedipine, 164 Nitrazepam, 163 Nitrofurantoin, 162 Nitrous oxide, 161 Nonacute porphyria, clinical features, 71 Normal ranges of porphyrin

concentrations, 59

Onchronosis, 263 Oral contraceptives, 115 "Orange-peel" skin, 202 Osmotic fragility, 221 Osteohemochromatosis, 264 Osteoporosis, 223 Other diseases, 227 Ovariectomy, 259 Oxazepam, 163 Oxazolidinediones, 163 Oxoheptanoic acid, see Succinylacetone 17-0xosteroids, 157, 159 Oxygen utilization, 289

radicals, 209 requirements in hematoporphyrin

derivative (HPD) therapy, 174 singlet state, 168

INDEX

Pain, treatment in acute porphyria, 105 Pan,uronium bromide, 162 Paper chromatography, 65 Paracetamol, 163 "Pemphigus Leprosus," 3 Penicillin, 162 Periodic acid Schiff (PAS) stain, 202 Pethidine, 161 Petry,S, 214, 264 Pharmacology of 5-aminolevulinic acid

(ALA) and porphobilinogen (PBG), 123, 286

Pharmacogenetic disease, 144 Phenobarbitone, 140, 155 Pheromones, 259 Phlebitis, 109 Phosphorescence, 168 Photobiology, 168 Photochemistry, 167 Photodynamic action of porphyrins, 221 Photoradiation therapy (PRT), 176,287 Photosensitivity, treatment, 116, 209

in congenital porphyria, 219 in cutaneous hepatic porphyria, 183 in erythropoietic protoporphyria, 202 in hereditary coproporphyria, 97 in variegate porphyria, 93

Phthalocyanines, 288 Phylloerythrin, 263 Physiotherapy, 107 Pigmentation, 219 Pigs, 274 Pink tooth, 265 Plains mouse, 262 Planck's constant, 167 Plasma porphyrins, 59, 171 Plumboporphyria, 97, 122, 130

incidence, 18, 77 and 5-aminolevulinic acid (ALA)

dehydratase, 97 Poikilocytosis, 221 Polychromasia, 221 Polycythemia, 234 Polyhalogenated hydrocarbons, 142, 194 Porphobilinogen (PBG), 47, 130

in congenital porphyria, 216 early description, 6, 7 history, 280, 282 neurotoxicity, 121, 126 renal excretion, 84 synthesis, 28 test for, 51

371

Porphobilinogen deaminase (PBG-D), 28, 282

in acute intermittent porphyria, 84 chromosomal location, 28 in congenital porphyria, 215 a control point, 15, 40 as a diagnostic aid, 284 in erythropoietic protoporphyria, 207 folic acid, 30, 116 inhibition by bilirubin, 30 measurement of activity, 56 mechanism of action, 29 menstruation, 115 molecular genetics, 87 molecular weight, 28 mutant alleles, 87 in variegate porphyria, 94

Porphobilinogen synthase, see ALA dehydratase

Porphyria, see individual diseases in animals, 257 in bovines, 263 erythropoietica, 11 in cats, 276 in dogs, 277 in swine, 274 in Turkey, 142

Porphyria cutanea tarda, see Cutaneous hepatic porphyria (CHP)

Porphyrins, 46, 57 absorbance spectra, 49 Circadian rhythm, 40 in coal, 257 in cutaneous hepatic porphyria, 180 crystals, 205 in eggshells, 257 in feathers, 257 geological, 23 isomers in congenital porphyria, 217 in liver in erythropoietic protoporphyria,

204 nomenclature, 21 normal ranges, 59 in other diseases, 227 peptide complexes, 285 pharmacological effects, 130 properties, 47 profiles, 68 structure, 21 in teeth, 275

Porphyrinogens, 21, 280 oxidation, 59

372

Porphyrinuria, 18,46 Porphyrism, 11 Port-wine coloration of urine, 264 Precipitating factors in acute porphyria, 98,

101 Prednisolone, 225 Pregnancy and acute porphyria, 79, 100,

112, 115, 126, 159 and congenital porphyria, 224 and heme biosynthesis, 254

Preliminary screening for porphyria, 51 Prenatal diagnosis, 224 Probenecid, 164 Propanadid, 161 Propentdyopents, 37, 130 Propofol, 161 Prostatic carcinoma, 189 Protein binding, 43, 170, 206

porphyrin pep tides, 59 Proteinuria, 83 Protocoproporphyria, 11 Protoporphyria in bovines, 272 Protoporphyrin, 206

activation of guanylate cyclase, 131 blockade of ATPases, 131 in erythrocytes, 208 in liver, 210 in plasma, 208 in variegate porphyria, 93

Protoporphyrinogen, 282 Protoporphyrinogen oxidase, 33

measurement of activity, 56 mechanism of action and location, 33 in variegate porphyria, 94

Pseudomys australis, 262 Psychiatric aspects of acute porphyria, 84 Psychiatric disorders, 253 Psychoanaleptics, 164 Psychosis, 285

and monopyrroles, 43 Pteridines, 116 Pyrazolone derivatives, 163 Pyridoxal phosphate depletion, 126

and 5-aminolevulinic acid (ALA) synthase, 25

neurobiochemistry, 45 Pyridoxine, 225 Pyrimethamine, 162 Pyruvate tolerance test, 135

Quanta of light, 167 Quantum yield, 172, 175

Quenching by carotenes, 209 Quinalbarbitone, 141 Quinine, 162

Rat hemidiaphragm, 126, 130 Red deer Harderian gland, 259 Red urine, 18, 219

INDEX

Reflexes in acute porphyria, 81 Regulation of heme synthesis, 38, 140 Reinnervation, 121 Renal features of acute porphyria, 83

complications during hematin therapy, 109

disease, 252 failure, 192

Respiratory function, 112 Reverse phase high-pressure liquid

chromatography (HPLC), 64 Rhodopseudomonas spheroides, 257 Rifampicin, 155, 162 Rotor syndrome, 247

Saccharomyces cerevisiae, 135, 148 Salicylamide, 134 Sarcoma, 171 Scarring, 202 Schiff base, 25 Schistosomiasis, 254 Schizophrenia, 84 Schwann cells, 120 Scleroderma pigmentosum, 224 Sciurus carolinensis and Sciurus niger, 258 Screening of relatives, 98 Second derivative spectrophotometry, 68 Secondary anemias, 232 Sedormid, 8, 139,281 Segmental demyelination, 120 Seizures, 163 Sex hormones, 157 Sexual dimorphism, 259 Sickle cell anemia, 233 Sideroblastic anemia, 229 Singlet state, 168, 175 Skeleton, brown coloration and red

fluorescence, 264, 276 Skin fibroblast culture, 134 Skin fragility, 219

changes in erythropoietic proto porphyria, 202

Sodium bromide, 163 Sodium potassium ATPase, 131 Sodium valproate, 163

INDEX

Soft tissue calcification, 223 Solar photosensitivity, 201, 213 Soretband,4, 49, 167, 174 South Africa, 284

bovine porphyria, 265 breeding of cattie, 267

South African genetic porphyria, see Variegate porphyria

Spectrophotometry and spectrofluorimetry, 47

Spirane structure, 30 Spleen, in congenital porphyria, 213, 222 Splenectomy, 217, 225 Squirrels, 258 Stercobilin and stercobilinogen, 37, 216 Steroids, 157

in acute intermittent porphyria (AlP), 9, 99

in the Harderian gland, 259 in hereditary coproporphyria, 97 porphyrinogenesis, 144

Storage and transport of porphyrins, 47 Stornoway, 213 Structures of porphyrinogenic drugs, 140 Succinylacetone, 27, 123, 133, 174 Sugars, use in acute intermittent porphyria

(AlP), 103 Suicide oxidation of 2-allyl 2-isopropyl

acetamide (AlA), 141 Sulfonamides in porphyrinogenesis, 144,164 Sulphonal, 4, 119, 139 Sun-blocking agents and screens, 117, 224 Superoxide radical, 175 Suxamethonium, 161 Sweden, 6, 144,284 Symblepharon, 223 Symptomatic porphyria, see Cutaneous

hepatic porphyria

Tachycardia, in acute porphyria, 79, 83, 106

in other conditions, 123 Tamias striatus, 258 Testing of drugs, 145 Tetrachlorodibenzodioxin (TCDD), 143,

194 Tetracyclines, 162 Thalassemia, 233 Theophylline, 165 Thermoregulatory lipids, 259 Thin-layer chromatography, 47, 65 Thiopentone, 161

Thiyl radical, 175 Three-allele system in erythropoietic

protoporphyria, 202 Thrombocytopenia, 225 Thudichum, 287

373

Thyroid function in acute porphyria, 91 Tin protoporphyrin,

inhibition of heme oxygenase, 37 Titanium oxide creams, 117 Titration of drug effect, 155 Tooth fluorescence, 258, 276

in bovine porphyria, 265 in congenital porphyria, 222 porphyrins, 275

Tranquilizers, 163 Transcutaneous nerve stimulation, 105 Transferrin receptors, 41 Transfusion therapy in erythropoietic

protoporphyria, 210 Transparency of tissue to light, 174 Treatment

of acute porphyria, 101 carbohydrates, 103 of cutaneous hepatic porphyria, 196 of congenital porphyria, 224 of erythropoietic protoporphyria, 209 hematin, 108 of photosensitivity, 116, 209

Triad of symptoms in acute porphyria, 11 Triglycerides, 208 Triplet state, 168,209 Tryptophan pyrrolase, 133, 148 d-Tubocurarine, 161 Tumors, 249, 287

in cutaneous hepatic porphyria, 195 uptake of porphyrins, 171

Turacin, 4, 6, 257, 280 Turacos, 257 Turkey, 139, 281

Urinary excretion of porphyrins, 54, 59, 62, 69

in swine, 276 Urobilin, 37,216 Urobilinogen, 225 Uroporphyrin I, in congenital porphyria,

214, 216, 264, 272, 275, 283 Uroporphyrin III-copper complex, 257 Urorubrohematin and urofuscohematin, 3 Uroporphyrin synthase, sec

porphobilinogen deaminase (PBG-D)

374

Uroporphyrinogen cosynthase, 28 in bovines, 269 mechanism of action, 29, 283 in congenital porphyria, 28, 215 in squirrels, 258

Uroporphyrinogen decarboxylase, 30 in congenital porphyria, 216 in cutaneous hepatic porphyria, 181 deficiency in yeast, 135 inhibition by hexachlorobenzene, 143 and the isocoproporphyrins, 30 isomer utilization, 30 measurement of activity, 56 in variegate porphyria, 94

Urospectrine, 5 U.s.A., bovine porphyria in, 266, 268

Valproate, 163 Vampires, 19 Variants of cutaneous hepatic porphyria,

198 Variegate porphyria, 91

antipyrine clearance, 134 clinical presentation, 71, 92 diagnosis, 93 enzymic features, 15 ferrochelatase, 15 heredity in South Africa, 78, 91 incidence, 17, 76 photobiology, 169

Variegate porphyria (COlli.)

plasma porphyrins, 171 porphyrin peptides, 59 skin features, 72, 92 treatment, 101

Venesection, 196 Venous thrombosis during hematin

therapy, 109, 110 Verapamil, 164

INDEX

Vesiculobullous cutaneous lesion, 169 Vinyl group formation, 32 Vitamin E, 188 Vitamin treatment, 116 Vomiting, 105

Waldenstrom, 11 Werewolves, 19

X-porphyrin, 59, 285 in variegate porphyria, 93

X-rays in congenital porphyria, 222 effects on paramecia, 288

Zinc depletion, 128 in congenital porphyria, 225

Zinc oxide creams, 117 Zinc protoporphyrin, 207