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A Clinical Guide to Inherited Metabolic Diseases
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  • 60 b/w illus.
  • Page extent: 360 pages
  • Size: 247 x 174 mm
  • Weight: 0.57 kg

Paperback

 (ISBN-13: 9780521614993 | ISBN-10: 0521614996)




Index




Page references followed by ‘n’ refer to a footnote.

α1-antitrypsin deficiency 135, 217

abdominal distension 129, 135, 136, 173

abdominal pain 173

abdominal wall, defects 111, 183

acetabula, synchondrosis 178

acetoacetate 93, 109, 112, 210, 247

Achilles tendons, thickening 157

acid-base balance 89–91

acid maltase deficiency 73

acute intermittent porphyria (AIP) 261–262

acylcarnitines 62, 112, 132, 140–141, 147, 151, 202, 212, 219, 220, 222, 231

   abnormalities shown up by screening 236

   laboratory investigation 254, 256–260, 286–287, 305

acyl-CoA dehydrogenase deficiencies 61–63

acylglycines 62, 112, 256–260

adenosine deaminase (ADA) deficiency 317

adipic acid 112, 132, 214

adrenal gland calcification 136–137, 220

adrenogenital syndrome 200

adrenoleukodystrophy, neonatal 46

   X-linked (XL-ALD) 48, 83, 293, 317

adrenomyeloneuropathy (AMN) 48

adult-onset inherited disease 16–17

   dementia 29–30

adults, treatment and support 318–321

α-fetoproteins (AFP) 136, 217, 219

Afrikaans people 86

α-fucosidosis 281

aggressiveness 30, 51, 83

α-glucosidase deficiency 73, 149

alanine 97, 98

albinism 1

albumin 91

Alder-Reilly bodies 170, 275

aldolase B deficiency 129

Alexander disease 48

alkaptonuria 1

allelic diversity 270–271

alopecia 35, 99

Alper’s disease 43, 78

α-mannosidosis 281

amino acids

   laboratory analysis 247–253

   quantitative analysis 248–253

   substitutions, single 3–4

amino acidopathies 6, 34, 56–61, 199, 201–202, 216, 224, 244

   diagnosis 244

   pregnant women 321

   treatment 302

5-aminolevulinic acid (ALA) dehydrase deficiency 261

aminotransferases 119, 135

ammonium

   metabolism 55–61, 75, 91–92, 124, 205, 306

   plasma measurement 55, 59, 246

amniocentesis 230

anasarca 217

anemia 135, 136, 184, 223, 311, 319

   hemolytic 77, 116–117, 138, 159

   megaloblastic 108, 306

   normocytic, normochromic 173, 183

α-neuraminidase 274

angiokeratoma 53, 159

anion gap 91, 113, 210

anorexia 61, 93, 135, 137, 138

anticonvulsants 32

anxiety 83

apnea 199

apolipoprotein B 191

arcus senilis 157

arginine 56–60, 71, 207

   administration 207, 307

arginine:glycine amidinotransferase (AGAT) deficiency 314

arginase deficiency 59

argininemia 59

argininosuccinic aciduria 7, 59, 60, 205

   treatment 307, 316

argininosuccinic acid (ASA) lyase deficiency 59, 206, 207, 307

Arias syndrome 117

arrhythmias 153–155

arterial distortion 183

arthralgia 184

arthritis 159

arylsulfatase A deficiency 49

ascites 135, 136, 138, 177, 216, 217, 223

ascorbate 313

Ashkenazi Jews 45, 48, 77, 173, 231, 232, 273

aspartate 60

aspartoacylase deficiency 47

aspartylglucosaminuria 281

ataxia 16, 53–54, 59, 63–69, 73, 93, 97, 177, 184, 190

   early-onset static 65

   progressive 69

   recurrent acute 65–69

atherosclerosis 155, 159

attention span, short 83

autonomic dysfunction 83, 86

autosomal dominant disorders 13–14, 72–73

autosomal recessive disorders 9–11

bacterial inhibition assays 233–235

Barth syndrome 149

Benedict’s test for reducing substances 233

betaine 304–305

bicarbonate administration 225

bicarbonate loss 91–93

behavioral problems 48, 51, 83–87, 194

β–galactosidase 274

β–glucosidase 173, 174

β–hexosaminidase deficiency 45, 46, 49

bile analysis 263

bilirubin 116–118, 209, 212, 215

bilirubin UDP-glucuronosyltransferase (BGT) deficiency 117

biopsy 8

   bone marrow 245

   conjunctival 275

   liver 209, 217, 219, 221, 293

   muscle 214, 283, 285

   skin 245, 275

biosynthesis, defects 7, 183–194

biotin 99, 212, 287, 312–313

biotinidase deficiency 35, 98–99, 238, 313

β-ketothiolase deficiency 101–102

blindness 29, 38, 44, 173

   cortical 43

blood tests

   acylcarnitines 202, 254, 259–260

   amino acids 202, 236

   ammonia 201

   enzyme assay 238–239

   galactose-1-phosphate uridyltransferase (GALT) 216

   gases 201, 205, 210

   ‘Guthrie test’ 233–235

   porphyrins 263

   radioimmunoassay 238

   tandem MSMS 235–238

   see also plasma tests

blue native polyacrylamide gel electrophoresis (BN-PAGE) 266–267, 290

bone marrow

   biopsy 245

   in storage diseases 174–176, 275

   transplantation (BMT) 317

bone radiographs 275

bradycardia 199

brain

   cortical atrophy 110

   malformations 213

   see also cerebral dysgenesis, etc; microcephaly

Brushfield spots 178

buffers 89–91

calcific stippling 178, 182, 209

calories, administration 224

Canavan disease 47–48

carbamoylphosphate accumulation 59, 60, 206

carbamoylphosphate synthetase 205

carbohydrate deficient glycoprotein syndrome 130, 186

carboxylase deficiency 35

cardiac dysrhythmias 207

cardiac syndrome 222–223

cardiomegaly 149

cardiomyopathy 45, 62, 73, 94, 100, 119, 124, 132, 215, 217, 219, 316

   arrhythmias 153–155, 219, 220, 222

   clinical characteristics 143–146

   coronary artery disease 155–159

   glycogen accumulation 149

   hypertrophy 214, 244

   investigation 148–153

   myocardial infarction 157, 159

   neonatal 222–223

   see also heart

carnitine 109, 123–124, 140, 212, 214, 220

   administration 305–306

   deficiency 124, 131, 132, 143, 146, 151

   L-carnitine 155

carnitine-acylcarnitine translocase 287

   deficiency (CACT) 143, 153, 155, 207, 220, 222

   carnitine palmitoyltransferase I (CPT I) 287

   deficiency 220

   carnitine palmitoyltransferase II (CPT II) 287

   deficiency 62–63, 77, 155, 212, 220, 222

case-finding 232

cataracts 178, 182, 185, 194, 214, 216

cellular metabolic screening 263–267

cellular migration abnormalities 163

ceramidase deficiency 177

cerebellum

   ataxia 69, 71, 184, 191

   atrophy 185, 191, 209, 213

   dysfunction 48

cerebral atrophy 70, 108, 209, 213, 214

cerebral creatine deficiency 71, 314

cerebral disfunction, diffuse 199

cerebral

   dysgenesis 209, 210, 212

   dysmorphism 163

   disorganisation 183, 178, 195

cerebral edema 204, 205, 209, 216

cerebral palsy 32, 59

cerebrotendinous xanthomatosis 159

ceruloplasmin 184

‘chemical chaperones’ 3, 309

cherry-red macular spots 45, 46, 48, 53, 177

   myclonus syndrome 38

cholestasis 135, 139, 216, 217

cholesterol

   biosynthetic disorders 184–186

   dietary 301

   familial hypercholesterolemia 155–159

   plasma level 137

   processing 52

chondrodysplasia punctata (CDP) 182

choreiform movements 71

choreoathetosis 69–70, 109

chorionic villus sampling (CVS) 230

chorioretinitis 173

chromatography 233, 247, 248

cirrhosis 118, 135, 136, 138, 146, 217, 220, 302, 316

citrulline 56, 59, 98, 205, 214, 306

citrullinemia (CTLN2) 60, 205, 216

   treatment 316

clinical syndromes, diagnosis 202

coagulopathy 135, 137, 138, 191, 193, 216, 217, 219, 223

cobalamin (vitamin B12) 107–108, 264–265, 306

coenzyme A (CoASH) 124, 305–306

coenzyme Q10 (ubiquinone) deficiency 45, 69, 74, 314

colorimetric tests 233

coma 93, 109, 120, 127, 138, 199

complementation analysis 264–265, 288, 312

congenital adrenal hyperplasia (CAH) 238, 306

congenital erythroderma 182

congenital disorders of glycosylation (CDG) 186–193, 196

congenital hypothyroidism 230, 233, 235, 238, 306

congenital malformations 21, 162–163, 186

congenital virus infections 170–173

conjunctival biopsy 275

conjunctivitis 99

Conradi-Hünermann syndrome 182

consanguinity 11

continuous venous-venous hemofiltration dialysis (CVVHD) 205, 208, 226, 304

copper 138–139, 183–184

copper histidine 184

coproporphyria 86

coproporphyrin 118, 263

Cori cycle 122, 123

corneal clouding 178

coronary artery disease 155–159

corpus callosum, agenesis 97, 182, 213

cortical atrophy 110

coumadin embropathy 182

counselling 9, 11–12, 48, 319, 320

cramping 75, 77

creatine 33, 71, 255, 314

creatine phosphokinase (CPK) 73, 119, 185

Crigler-Najjar syndrome 117, 118, 215, 316

cryptorchidism 185

CSF

   amino acids 247, 250

   glycine 208

   neurotransmitters 253–254

   protein levels 191

cultures

   enzyme analysis 223

   muscle 214

   skin fibroblasts 212, 219, 222, 264, 266

cybrid analysis 266

cystathionine 193

cystathionine β-synthase (CBS) deficiency 193, 304–305

cysteine 217

cystic kidney disease 111, 178, 183, 212

cystinosis 92, 93

cystinuria 1

cytochrome c oxidase 289

   deficiency 113, 214, 215, 223

cytosolic acetoacetyl-CoA thiolase deficiency 102

cytosolic aspartate deficiency 60

deafness 46

deformations 162–163

7-dehydrocholesterol (7-DHC) 185–186

deletion mutations 3, 16, 272

delirium 86

dementia 29–34, 35, 48, 83–86

Denver Developmental Screening Test 29

deoxyguanosine kinase (dGK) deficiency 137

depression 83

developmental delay 186

   metabolic acidosis 93

   neurologic syndrome 29, 35, 51, 71

   storage syndrome 170

dextromethorpan 208

diabetes mellitus 44, 100, 112, 152

   maternal 220

diagnosis

   clinical syndromes 202

   laboratory investigation 200–202, 241–245

   loading tests 268–269

   molecular genetic studies 270–274, 290

   need for promptness 226

   non-specific signs 198–199

   onset 243

   sources of confusion 17–21

   suspicion 198–200

   tolerance tests 267–268

dialysis 205, 207, 208, 226, 303–304

diarrhea 83, 91, 113, 136, 137, 183, 184, 191

diathesis, bleeding 135, 136

diazoxide 133

dicarboxylic aciduria 112, 131, 214–215

dichloroacetate 98, 313

diet 223–226, 238, 319

   restriction 297–301

dimethyl glycine 313

disruptions (dysmorphism) 163

disseminated neuroblastoma 173

diverticula of the bladder 183–184

D-lactic acidosis 113–114

dopa-responsive dystonia 14, 70

drowsiness 53, 61, 93, 109, 120, 131, 135, 198

drugs

   administration 226

   interreactions 320

Dubin-Johnson syndrome 118, 215

Duchenne muscular dystrophy 231

dysfibrinogenemia 135, 217

dyskinesia 190

dysmorphism 21, 46, 97, 111

   diagnosis 194–196, 244

   skeletal 165, 168–170, 185, 186, 194

   types 162–164

   see also facial

dysostosis multiplex 147, 165, 195, 223

dystonia 69–71, 109, 110

ears, shape and size 165, 178, 190, 213

edema 129, 135, 136, 138, 223

electrolyte disturbances 72

electron transport flavoprotein (ETF) 110, 125, 183

   ETF dehydrogenase 110, 183

encephalopathy, acute 53–63, 69–70, 132, 190, 199, 200, 220

   with metabolic acidosis 63, 93, 101, 103, 109, 113, 137, 201, 210–215

   without metabolic acidosis 203–210

encephalopathy, chronic 29–50

   investigation methods 34, 283

   with non-neural tissue involvement 50–53

endocardial biopsy 148–149

endocardial fibroelastosis 148

endocrinopathies 44, 100, 185

enzymes

   assay 238–239, 246, 270, 283, 289–290

   cofactors 309–311

   enzymology 269–270

   lysosomal enzymes 274–275, 282–283

   metabolism 2–4

   replacement therapy (ERT) 150, 174, 239, 308–309, 317

Erlenmeyer flask shape in femurs 174, 175

erythematous desquamative skin changes 182

Escherichia coli sepsis 200, 216

esophageal varices 135

ethnic groups, inheritance 11, 12, 45, 48, 61, 77, 98, 173

   screening 232, 239

ethylmalonate 111, 112

ethylmalonic-adipic aciduria (GA II) 111, 112–113

ethylmalonic encephalopathy 113

exercise intolerance 74–75, 77

expressivity 14n

extrapyramidal disturbances 29, 31

eyes 193

   blindness 29, 38, 43, 44, 173

   cataracts 178, 182, 185, 194, 214, 216

   cherry-red macular spots 38, 45, 46, 48, 53, 177

   conjunctivitis 99

   corneal clouding 178

   dislocation of lens 210

   glaucoma 178, 194

   gyrate atrophy 17, 307

   in homocystinuria 194

   myopia 194

   opsiclonus 173

   optic atrophy 99, 194

   retinal degeneration 100, 190, 194

   retinal detachment 194

   retinitis pigmentosa 16, 28

   storage diseases 168, 177, 178

   strabismus 190

Fabry disease 83, 148, 151, 153, 159, 271

   treatment 303, 308, 309, 316

facial appearance

   diagnostic characteristics 127, 147

   dysmorphism 162, 163, 165–173, 178, 180, 182–183, 184, 185, 190, 209, 212, 213

failure to thrive 198

   biosynthetic defects 183, 184, 185, 186, 191

   hepatic syndrome 127, 127, 129, 135, 136, 137

   metabolic acidosis 93, 97, 98, 108, 215

   neurologic syndrome 35, 52, 63

   storage syndrome 170, 177

familial erythrophagocytotic lymphohistiocytosis (FEL) 173

familial hemiplegic migraine (FHM) 63

familial hypercholesterolemia 155–159, 317–318

Fanconi-Bickel syndrome 92, 129

Farber lipogranulomatosis 177, 195

fasting 77, 101

   intolerance 127, 221, 302

   tests 139–141, 267, 269

   tolerance of 133

fatty acid oxidation 122–125

fatty acid oxidation defects (FAOD) 7, 61–64, 130–132, 143, 207, 287

   cardiac disease 143, 146–147, 149, 151, 155, 222

   investigation 139, 140–141, 202, 256, 269, 286–287

   neonatal 214, 219, 223

   pregnant women 320

   screening 230, 236, 264

   treatment 223–224

fatty acid transport defects 222

feces, analysis 260

feeding difficulties 108, 109, 178, 183, 198, 210, 215

feet, shape and form 168, 183, 185

femurs, dysmorphism 174

ferric chloride test 233

ferritin 219

fetus risk in women with congenital metabolic disease 320–321

fever 177, 184

fingers, shape and size 168

fluids, administration 225

foamy histiocytes 52

Folstein Mini Mental State Examination 29

‘founder effect’ 11

fructose intolerance 129–130, 137, 191, 193, 219–220

   loading 268–269

fructose-1,6-diphosphatase (FDP) deficiency 129, 130, 213, 221

frusctose-1-phosphate aldolase deficiency 220

fucosidosis 53

fumarylacetoacetate 302

   hydrolase (FAH) 136, 217, 219

galactitol 6, 301

galactose-1-phosphate 298–301

   uridyltransferase (GALT) 191–192, 216, 238–239

galactosemia 6, 21, 92, 117, 118, 125, 191–193, 199, 200, 202, 216

   screening 230, 238

   treatment 298–301

   women patients 319

galactosialidosis 274, 281

galactosuria 202, 216

Garrod, Sir Archibald 1, 2

gas chromatography-mass spectrometry (GC-MS) 202, 247, 254, 305

gastrointestinal abnormalities 113

Gaucher disease 51–52, 136, 173–177, 245, 275, 281

   treatment 303, 308–309, 317

gene product replacement 307–309

gene product stabilization 309

gene transfer therapy 314–318

genetic counselling 9, 11–12, 48, 320

genitalia, ambiguous 185

Gilbert syndrome 117, 215

glaucoma 178, 194

globoid cells 6

globotriaosylceramide (GL-3) 151, 159

glucagon administration 221, 268, 269

glucocerebrosidase

   administration 308

   deficiency 173

glucose administration 125, 221, 224–225, 302

glucose metabolism

   gluconeogenesis 100, 121–124, 131, 139, 213, 221, 223, 269

   over-utilization 130–133

   production 120–130

glucose-6-phosphatase deficiency 127–129

glucose-6-phosphate dehydrogenase (G6PD) 216

   deficiency 117

glucose transport defects 35

glutaconic acid 110

glutamate hydrogenase mutation 132

glutamic acid decarboxylase 209

glutamine 207–208

glutarate 111

glutaric aciduria

   secondary 111–112

   type I (GA I) 69–70, 109–110

   type II (GA II) 110–111, 125, 147, 163, 183, 212, 215, 244

glutaryl-CoA dehydrogenase deficiency 109

glycerol 123

glycine 207–208, 212

   administration 306

glycogen accumulation 149

glycogen brancher enzyme 136, 220

glycogen debrancher enzyme 73, 119

glycogen metabolism 120, 127

glycogen storage diseases 7, 73, 100, 146, 316

   type I 63, 92, 96, 118, 119, 127, 129, 130, 131, 140, 146, 163, 213, 221

   type II (Pompe disease) 73, 146, 148, 149–150, 244, 281, 283

   type III 73, 119, 127, 146

   type IV 136, 146, 149, 220

   type VI 119

glycogenolysis 139, 269

glycolipid metabolism disorders 151

glycoprotein oligosaccharides 191

glycosaminoglycan 147

glycosphingolipid storage diseases 302–303

glycosuria 125

glycosylation (CDG) syndrome 46

   1a 170, 186–191

   1b 137, 191

GM1 gangliosidosis 53, 69, 281

GM2 gangliosidosis 31, 45–46, 48, 69, 83

   treatment 303

granulocyte-colony stimulating factor (G-CSF) 129

granulomas 177, 195

gray matter disease (poliodystrophy) 29

growth failure or retardation 44, 60, 93, 129, 165, 168

guanidinoacetate methyltransferase (GAMT) deficiency 71, 314

‘guthrie test’ 233–235

gynecomastia 138

gyrate atrophy 17, 307

hair abnormalities 183

hallucinations 83

haptoglobin 191

Harris, Harry 2, 238

headaches 44

hearing loss 152, 180

heart block 153–154

heart disease, congenital 21, 93, 94

   endocardial biopsy 148–149

   see also cardiac etc

heart failure 93, 219

hemiparesis 44, 190

hemochromatosis 2, 136, 219

hemodialysis 205, 208, 226, 304

hemoglobin concentration 89

hemolytic anemia 77, 116–117, 138, 159

Henderson-Hasselbach equation 89–90

hepatic ketogenesis 122

hepatic phosphorylase deficiency (GSD VI) 119

hepatic syndrome 52

   neonatal 215–221

   presentations 116

hepatoblastoma 136

hepatocarcinoma 302

hepatocellular dysfunction 28, 117–118, 125, 133–139, 137

   age of onset 133–139

   amino acid analysis 250

   in cardiomyopathy 146, 147, 151, 222

   CDG 190, 191

   investigation 139–141

   metabolic acidosis 100, 110

   neonatal hepatic syndrome 216, 217–220

   neonatal with encephalopathy 207, 209, 212, 214, 215

   neurologic syndrome 70, 71, 78

   peroxisomal disorders 180

   storage syndrome 177

   treatment 316

hepatomas 217

hepatomegaly 60, 61, 109, 111

   cardiomyopathy 146, 149

   hepatic syndrome 118–120, 127, 129, 130, 131, 137

   neonatal 209, 213, 214, 220, 221

   neurologic syndrome 60, 61

   storage syndrome 165, 177, 178, 183, 190

hepatorenal tyrosinemia 83, 92, 118, 133, 135–136, 199, 217, 219, 250, 260

   treatment 302, 316

hepatosplenomegaly 28, 50–52, 135, 136, 147, 165, 170, 173, 177, 223

hereditary fructose intolerance (HFI) 92, 96, 118, 125, 129–130, 137, 191, 193, 199

   in the newborn 219–220

   testing 269

heteroduplex analysis 272

heteroplasmy 15–16, 78, 290

HHH syndrome 7–9, 60, 83

   treatment 306–307

high-performance liquid chromatography (HPLC) 247, 248, 259

hippuric acid 304

histiocytes

   abnormal 52

   accumulation 174, 177, 195

‘histiocytoid’ cardiomyopathy 149

histiocytosis X 173

HMG-CoA lyase deficiency 109

Hodgkin’s disease 174

holocarboxylase synthetase deficiency 98, 212, 312–313

homocitrullinemia 7

homocysteine 304

homocystine 193, 312

homocystinemia 108

homocystinuria 53, 63, 108, 193–194, 244

   treatment 304–305, 312

homogentisic acid 1

homoplasmy 15

homozygosity 9, 270

hormones

   administration as test 268, 269

   hormone replacement therapy 319

   measurement 238

HPRT deficiency, X-linked 30

Hunter disease (MPS II) 12, 30, 51, 83, 271

   treatment 308, 309

Hurler disease (MPS IH) 50–51, 147, 162, 168

   treatment 309, 317

hydrogen ion concentration 89–91

hydrops, non-immune fetal 165

3-hydroxybutyrate 93, 112, 130–131, 210, 214

   measurement 247

3-hydroxyglutarate 110

3-hydroxyisobutyric aciduria 212

3-hydroxyisovalerylcarnitine (C5OH) 236

3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency 109, 212

3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) reductase 155

17-hydroxyprogesterone 238

hydroxyproline 111

hyperactivity 30, 51, 83

hyperalaninemia 214

hyperammonemia

   carnitine deficiency 150

   hepatocellular disorder 135

   hypoglycemia 131, 132

   metabolic acidosis 93, 98, 98, 101, 103, 109, 110, 111

   in the newborn 200, 202, 205–208, 212, 213, 214, 217, 220, 222

   transient hyperammonemia of the newborn (THAN) 200, 205–208

   treatment 305–307

hyperammonemic encephalopathy 7–9, 17, 55–62, 83

hyperbilirubinemia 138, 217

   conjugated 117, 118, 135, 215

   unconjugated 116–118, 215

hyperchloremic acidosis 91, 129, 216

hypercholesterolemia 63, 155–159

hyperglycinemia 250

hypergonatrophic hypogonadism 319

hyperinsulinsim 127, 130–131, 132, 221

   hyperinsulinemic hypoglycemia 191

hyperkalemic periodic paralysis (HyperPP) 72

hyperlipidemia 17, 119, 157–159

hyperornithinemia 7

hyperoxaluria type I 316

hyperphenylalaninemia 232

   maternal 222

hypersplenism 173

hypertonia 199, 215

hypertriglyceridemia 127

hypertrophic cardiomyopathy 214

hypertyrosinemia 133

hyperuricemia 77, 127, 129, 221

hypoalbuminemia 137, 209, 216, 217, 219

hypoglycemia 34, 63, 183, 191

   diagnosis 125–133

   hepatic syndrome 119, 135, 137

   investigation 140

   metabolic acidosis 93, 109, 110

   metabolism 120–125

   neonatal 204, 212, 213, 216, 217, 219, 220–221

   symptoms 120

   treatment 225

hypoglycorrhachia 35

hypogonadism 191

hypokalemic periodic paralysis (HypoPP) 72

hypoketotic hypoglycemia 61–62, 111, 124, 126–127, 130–132, 150, 212, 214, 215

hypophosphatemia 127, 129, 216

   rickets 129, 135

hypoplasia 170

hypoproteinemia 216

hypospadias 111, 183, 185

hypothermia 183, 199

hypotonia

   carnitine deficiency 151

   metabolic acidosis 97, 98, 99, 102, 108, 109, 110, 111, 130, 135, 136, 137

   neonates 198, 205, 209, 214, 215, 219, 220

   neurologic syndrome 45, 46, 61, 70, 71, 72, 73

   storage syndrome 177, 178, 180, 182, 183, 184, 185, 186, 190, 191

hypoxanthine phosphoribosyltransferase (HPRT) deficiency 69

hypoxemia 93

hypoxic-ischemic encephalopathy 198, 213

I-cell disease 274, 281

ichthyosis 182

icteric hepatitis, acute 137–138

imaging techniques 33, 195, 242, 245

imiglucerase 308

immunodeficiency 191

   severe combined immunodeficiency (SCID) 317

impulsivity 30, 51, 83

inbreeding 11

infantile Refsum disease (IRD) 46, 179

inheritance

   family history 9–11, 199

   Mendelian recessive inheritance 1, 9

   mitochondrial 14–16

   myopathy 78

   see also ethnic groups

inherited metabolic disease

   definitions 1–2

insertion mutations 3, 272

insulin

   administration 205, 302

   metabolism 127, 130–131, 132, 221

intercurrent illnesses, diagnostic confusion 20–21

internet sites 21–26, 273–274

intoxications 198

intrahepatic cholestasis 216

intraventricular hemorrhage 198

ion channelopathies 69

ion-exchange chromatography 247, 248

iridodonesis 194

irritability 30, 83, 120, 129, 135

ischemic heart disease 157

isoleucine 203, 301

isovaleric acidemia 200, 212, 301

Japanese congenital disorders 61, 77, 217

jaundice 116–118, 129, 135, 137, 138, 209, 215–217

Kayser-Fleischer corneal rings 138

Kearns-Sayre syndrome 16, 153, 155

kernicterus 117, 215

ketoacidosis 9, 70, 100–103, 109, 123, 213

2-ketoacyl-CoA decarboxylase deficiency 203

2-ketoadipic aciduria 112

ketonuria 61, 109, 131, 200, 203

ketosis 110, 112, 119, 213, 221

ketotic hyperglycinemia 9

kidney function 89–91

kidneys

   cystic disease 111, 178, 183, 212

   enlarged 127, 183

   transplants 316

   see also renal etc

Krabbe globoid cell leukodystrophy 6, 30, 49, 83, 317

laboratory investigation, initial 200–202

   cellular metabolic screening 263–267

   ‘metabolic screen’ 245–246

   mutation analysis 290

   ‘organelle disease’ 274–294

   principles 241–245

   ‘small molecule disease’ 246–263

lactate 93, 114, 127, 210

   D-lactic acidosis 113–114

   lactate-pyruvate ratio (L/P) 93, 98, 100, 213, 214, 266

   measurement 246

lactic acidosis 39–45, 78, 93–99, 125, 127, 130, 137, 152, 287

   diagnosis 213

   neonates 213–214, 219–220, 221, 223

   treatment 225

L-carnitine 155

L-dopa 70, 71

Leber hereditary optic neuropathy (LHON) 17

Leigh disease 16, 39–43, 45, 78, 97, 98, 100

   diagnosis 242, 285

Lesch-Nyhan syndrome (HPRT deficiency) 30, 69

lethargy 93, 109, 131, 198, 199, 214

leucine 109, 203–205, 298

leucine encephalopathy see maple syrup disease

‘leucine-sensitive hypoglycemia’ 132

leukodystrophy (white matter disease) 47–50

   metachromatic leukodystrophy 31, 49, 69, 83, 317

   neonatal adrenoleukodystrophy (NALD) 179

   sudanophilic leukodystrophy 180

lipase 220

lipodystrophy 190

lipoprotein metabolism 155–159

liver

   abnormal 109

   biopsy 209, 217, 219, 221, 293

   cirrhosis 118, 135, 136, 138, 146, 217, 220, 302, 316

   shape and feel 118, 119, 135, 215, 217

   transplants 146, 316

   see also hepatic; hepatocellular

loading tests 268–269

long-chain acyl-CoA dehydrogenase (LCAD) deficiency 62, 146, 147

   in the newborn 215

long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency 146, 147, 149, 287–288

   neonatal 215

   pregnant women 320

low-density lipoprotein (LDL) 155, 157

   LDL-cholesterol 191

Lowe syndrome 92

Lucey-Driscoll syndrome 215

lumbar kyphosis 168

lymphadenopathy 173, 177

lysine 60, 98, 214

lysinuric protein intolerance (LPI) 60

lysosomal disorders 28, 73, 118, 148, 165–177, 220

   adults 319

   laboratory investigation 274–283

   lysosomal α-galatosidase administration 308

   lysomal β-glucosidase deficiency 51

   pregnant women 320

   screening 239, 265

   storage syndrome 165–173, 195, 223, 243, 245

   treatment 302–303, 307–308, 317

lysosome associated membrane proteins (LAMP) 239

macrocephaly 45, 46, 165

macular degeneration 38

magnetic resonance spectroscopy 242

malaria 117

maleylacetoacetate 302

mannitol 205

mannosidosis 53

maple syrup disease (MSUD) 61, 65, 97, 100, 199, 200, 203–205

   effect of intercurrent illness 298

   treatment 224, 225, 316

Maroteaux-Lamy disease 168, 308

McArdle disease 74–75

measurements

   enzyme activity 213

   laboratory investigation 242

   see also blood, plasma, urine tests; imaging; screening

medium-chain acyl-CoA dehydrogenase (MCAD) deficiency 61, 109, 112, 131, 146, 287, 288

   in the newborn 214, 219

   screening 231, 239, 273

megalencephaly 47, 165

megaloblastic anemia 108, 306

MELAS syndrome 44

Mendelian recessive inheritance 1, 9

meningomyelocele 21

Menkes disease 53, 183–184

mental retardation 1–2, 11, 16, 30, 182, 193, 209, 319, 320

metabolic acidosis 31, 35, 63, 98, 103, 183, 200, 204, 238

   in cardiomyopathy 147

   in the newborn 210–215, 220

   treatment 225, 304

‘metabolic screen’ 245–246

‘metabolic sequestration’ 7

‘metabolic steals’ 7

metachromatic leukodystrophy 31, 49, 69, 83, 317

methionine 135, 193, 217, 301, 305, 312

methionine synthase 108

3-methylcrotonyl-CoA carboxylase (3MCC) deficiency 236–238

methylenetetrahydrofolate reductase (MTHFR) deficiency 305

methylmalonate metabolism 264

methylmalonic acidemia (MMA) 9, 103–109, 201, 202, 250

   adults 319

   in the newborn 212

   treatment 301, 305, 312

methylmalonyl-CoA mutase (mut) deficiency 103–109

methylsuccinate 112–113

mevalonic aciduria 184–185, 244

microcephaly 185, 222, 320

microscopic examination of tissue 244–245

miglustat 302–303

migraine 63

mitochondrial cardiomyopathies 151–153

mitochondrial disorders 182–183, 243

   laboratory investigation 283–292, 283–285

mitochondrial depletion syndrome, early-onset 137, 220

mitochondrial electron transport chain (ETC) defects 28, 39, 43, 45, 69, 77–79, 100, 111–112, 195, 213, 214

   cardiac disease 143, 147, 149, 223

   investigation 266, 283–292

   treatment 313–314

mitochondrial encephalopathy 44

mitochondrial inheritance 14–16, 112

mitochondrial lesions 148

mitochondrial proliferation 149, 152

mitochondrial tRNA 44, 266

mitral abnormalities 143–146

molecular genetic studies 270–274, 290

molybdenum cofactor deficiency 209–210

Morquio disease 168–170, 278

motor difficulties 47, 51, 109

movement disorder 63–71

MRI spectroscopy 33, 283

mtDNA mutations 14–16, 79, 147, 152–153, 266

mucolipidosis type IV 275

mucopolysaccharide storage (MPS) diseases 6, 21, 147, 163, 168

   tests 276–279

   treatment 308–309, 317

   see also Hunter disease; Hurler disease; Sanfilippo disease; Scheie disease; Sly disease

multiple acyl-CoA dehydrogenase deficiency (GA II) 110–111, 112, 125, 147, 212

multiple carboxylase deficiency 98–99, 312–313

multiple sclerosis 48

multiple sulfatase deficiency 163

multisystem disease 213, 214

   myopathy 77–70

muscle biopsy 214, 283, 285

muscle weakness 72–73, 136, 190, 215

‘mut’ deficiency 103–109

mutation analysis 212, 220, 222, 239, 270–274, 290

   benign polymorphisms 273

mutations in enzymes 2–4

myoclonic seizures 99

myclonus 38, 99

   palatal 48

myoadenylate deaminase deficiency 77

myocardial ischemia 159

myocardial infarction 157, 159

myoglobinuria 73, 74–77

   CPT II 77

myopathy 71–82, 117, 132

   categories 72

   in heart disease 146

   progressive 30, 73–74

   skeletal 100, 124, 136, 146, 147, 149, 151, 152, 214, 219, 316

myophosphorylase deficiency (McArdle disease) 74–75, 77

myopia 194

myotonia 72

N-acetylaspartate (NAA) accumulation 47

NADH

   accumulation 45, 99–100

   oxidation defects 266

neonatal adrenoleukodystrophy (NALD) 179

neonatal hepatic syndrome 215–221

neurologic disease, types 28–29

neuronal ceroid lipofuscinosis (NCL) 35–38, 148, 244–245, 275

neurotransmitter metabolism disorders 70, 71

   laboratory investigation 253–254

neutropenia 21, 103, 129, 173, 200, 201, 212, 221

Niemann-Pick disease (NPD) 52, 69, 147, 148–149, 174–177, 220, 245

   treatment 303, 317

nitrogen metabolism 56, 207–208

nocturnal restlessness 30, 51, 83

non-immune fetal hydrops 165, 223

nonketotic hyperglycinemia (NKHG) 199, 208, 231

non-sterol isoprenoid biosynthesis 184

nosebleeds 127

NTBC 136, 302, 316

nystagmus 178, 209

obesity, diagnostic 127

obtundation 54–55

odor, diagnostic 98, 111, 200, 203–204, 212

oligosaccharides, urinary 38, 53, 149, 280–281

   spurious oligosacchariduria 281

oncocytic cardiomyopathy 149

onset of disease 243

opisthotonus 109

opsiclonus 173

optic atrophy 99, 194

organ transplantation 314–317

organelle diseases 69, 164, 194–196

   diagnosis 243–245

organic acidopathies 6, 9, 32–33, 57–64, 65, 100, 151, 199, 200, 205

   investigation 254–260

   treatment 305–306, 316

organic aciduria 103–114, 210–212, 230

organic anion accumulation 93

organomegaly see hepatomegaly; hepatosplenomegaly, etc

ornithine 7–9, 56, 60, 71, 207

   administration 306–307, 314

ornithine aminotransferase (OAT) deficiency 307

ornithine transcarbamoylase (OTC) deficiency 17, 56, 59, 205–206, 320

orotic acid accumulation 59, 206

orthostatic acrocyanosis 113

osteopenia 183

osteopetrosis 173

osteoporosis 194, 319

otitis media 21, 165

oxaloacetate 121, 122

paper chromatography 233, 247, 248

paramyotonia congenita (PMC) 72

paranoia 83

parental consanguinity 199

parkinsonism 70, 71

patient support 318

   adults 318–321

Pelizaeus-Merzbacher disease 271

penetrance 14n

pentosuria, benign 1

pericardial effusion 190

peripheral neuropathy 49–50, 69

peritoneal dialysis 207, 303–304

peroxisomal disorders 46, 178–182, 195, 209

   diagnosis 243, 247

   laboratory investigation 293–294

personality changes 83

petechiae 113

phenobarbital 117

phenylalanine 1, 135, 217, 233–235, 248

   dietary restriction 297–298, 302

   ratio to tyrosine 236

   tolerance test 267–268

phenylketonuria (PKU) 1–2, 17

   diagnosis 244

   maternal PKU embryopathy 222, 320–321

   screening 228, 230, 231, 232–235, 259, 267

   treatment 297–298

phenylpropionate 140

phosphoenolpyruvate carboxykinase (PEPCK) 122

   deficiency 127, 129, 130

phosphofructokinase (PFK) deficiency 75–77, 117

phosphomannomutase (PMM) deficiency 186

phosphomannose isomerase (PMI) deficiency 191

phosphorylase b kinase deficiency 119, 149

physiologic stress testing 269

phytanic acid 294

   oxidation 182

pipecolic acid 294

plasma electrolyte abnormalities 200, 201

plasma tests 242, 246

   acylcarnitines 212, 219, 222, 305

   amino acids 201–202, 204, 205, 207, 208, 212, 213–214, 217, 247–253

   ammonium 246

   carnitine 214, 220

   electrolytes 205

   free fatty acids 246–247

   ketones 246–247

   lactate/pyruvate 213, 246

   pipecolic acid 294

   uric acid 210

   very long chain fatty acids 209, 293, 294

plasmalogens 294

   biosynthesis 182

poliodystrophy 29

polydactyly 163

polyuria 129

Pompe disease (GSD II) 73, 146, 149–150, 281, 308

porphyria 14, 83, 86–87, 260, 302

porphyrins, measurement 260–263

portal hypertension 135, 217

postpartum hemorrhage 173

posturing 70, 199

potassium 72

pregnancy and inherited metabolic disease 320–321

proline 98, 111, 214

propionic acidemia 9, 103, 112, 153, 201, 202, 250, 305

   in the newborn 212

   treatment 301

protein-losing enteropathy 191

protein polymorphisms, demonstration of 2

proteinuria 151

provocative testing 267–269

pseudo-Hurler polydystrophy 281

pseudo-obstruction 78

pseudo-Zellweger syndrome 46

psychiatric problems 83–87, 194

psychomotor regression 83–85

psychomotor retardation

   hepatic syndrome 117

   investigation 32–34

   metabolic acidosis 97, 98, 99, 100, 102, 108, 113

   neurologic syndrome 28, 29–31, 35, 44, 61, 63, 69

   presentation 30–32

   storage syndrome 177, 180, 183, 184, 185, 190, 191, 193–194

psychosine 6

psychosis 83, 86

ptosis 185

pulmonary hemorrhage 200

pulmonary hypertension 93

pyorrhea 129

pyramidal tract disorders 31, 48, 73

pyridoxine treatment 194, 226, 312

pyroxidine-dependent seizures 35, 209

pyruvate 121, 213

   accumulation 94–97

   measurement 246

   metabolism 45, 213

pyruvate carboxylase (PC) 121, 287, 312

   deficiency 45, 91, 98, 100, 129, 213, 287

pyruvate dehydrogenase (PDH) 287

   deficiency 39, 43, 45, 65–69, 97–98, 163, 164, 183, 213, 287

pyruvate dehydrogenase (PDH) kinase 313

pyruvate kinase (PK) deficiency 117

quadriparesis 177

radioimmunoassay 238

ragged red muscle fibers 74, 79, 152, 285

Raven’s Progressive Matrices 30

reflexes, deep tendon 73, 135, 136, 177, 190

Refsum disease, infantile 46, 179

renal cystic dysplasia 212

renal Fanconi syndrome 92

renal tubular dysfunction 28, 45, 91, 191, 214, 216, 217

   amino acid analysis 250

   early-onset 129

   hepatic syndrome 127, 129, 130, 135, 137

reproductive planning, screening for 230–231, 232

respiratory alkalosis 91, 200, 205

respiratory problems 52, 93, 177, 199, 210, 223

retinal degeneration 100, 190, 194

retinal detachment 194

retinitis pigmentosa 16, 28

Rett syndrome 34

Reye syndrome 109

Reye-like acute encephalopathy 61–63, 110, 124, 131

rhabdomyolysis 75

rhizomelic chondrodysplasia punctata (RCDP) 46, 180–182

rickets 129, 135, 306, 311

Rosenthal fibers 48

Rotor syndrome 118

Sandhoff disease 45–46, 69, 281

Sanfilippo disease (MPS III) 21, 30, 51, 83, 279

Scheie disease (MPS IS) 2, 168

Schindler disease 281

SCOT deficiency 102–103

screening

   cellular metabolic screening 263–267

   criteria 228–229

   ethics 231, 232

   false positive results 232–233, 235, 238

   genetic abnormalities 271–273

   ‘metabolic screen’ 245–246

   PKU 228, 230, 231, 232–235

   tandem MSMS 62, 141, 147, 202, 212, 219, 220, 235–238

   technology 233–239

sebacic acid 112, 132, 214

seborrheic dermatitis 35, 99

‘second wind’ phenomenon 74–75

Segawa syndrome 14, 70

seizures

   characteristics of metabolic disorders 34

   hepatic syndrome 120, 127, 131

   metabolic acidosis 97, 98, 109

   neonates 204, 209, 213, 215

   neurologic syndrome 29, 31, 34–46, 70, 71, 73

   pyroxine-dependent 209

   storage syndrome 177, 178, 180, 183, 190, 191, 194

self-mutilation 30, 69

senses, special, impairment 29, 31, 38, 180

   see also eyes; hearing

sepsis 198, 200, 220

severe combined immunodeficiency (SCID) 317

shock 93, 225

short-chain acyl-CoA dehydrogenase (SCAD) deficiency 62, 112–113, 214–215, 287, 288

   screening results 236

sialidosis 38, 53, 281

single gene transfer therapy 317–318

single-strand conformation polymorphism (SSCP) 272

sitosterolemia 159

skeletal dysmorphism 165, 168–170, 185, 186, 194

skeletal myopathy 100, 124, 136, 146, 147, 149, 151, 152, 214, 219, 316

skin

   biopsies 245, 275

   disorders 182

   lesions 151

   tanning 48

skull abnormalities 168, 178, 183, 184, 209, 213

Sly disease (MPS VII) 51

small size for gestational age (SGA) 213, 222

Smith-Lemli-Opitz syndrome 21, 162, 163, 185–186

sodium benzoate 207, 208, 226, 304

sodium bicarbonate 91

sodium phenylacetate 207–208, 226

spastic paraplegia 48

spasticity 69, 70, 113

spectrofluorometric testing 234

speech delay 30, 51

sphingolipids 265

sphingomyelinase deficiency 52, 174

spider nevi 138

splenomegaly 118, 119, 173, 174

spondylo-epiphyseal dysplasia 168

starvation tests 269

steatosis 138, 183

storage syndrome 165–173

strabismus 190

striated ichthyosiform hyperkeratosis 182

stroke 63, 159, 190

stupor 93, 120, 131, 199

subcutaneous nodules 157, 177

suberic acid 112, 132, 214

substrates, accumulation of 4–6, 297–306

succinate administration 313

succinylacetone 136, 217–219, 260

succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency 102–103

sudanophilic leukodystrophy 180

sulfatide 49

sulfite oxidase deficiency 209–210

supranuclear gaze palsy 52

sweating 120, 157

systemic carnitine deficiency 62, 149, 150–151, 222, 225

tachypnea 89, 93, 127, 157, 199, 210

tandem MSMS analysis 62, 141, 147, 202, 212, 219, 220, 235–238, 247, 248, 254, 259–260

Tay-Sachs disease 45, 69, 163

   screening 231, 232, 273, 275

teeth and gums 165–168, 173

tendinous xanthomatosis 159

tetralogy of Fallot 222

thalamus, abnormalities 45

thin-layer chromatography (TLC) 247, 279, 280–281

thoracic scoliosis 194

   kyphoscoliosis 191

threonine 301

thrombocytopenia 103, 135, 173, 201, 212

thromboembolism 194

thymine 301

thyroid hormone replacement 306

thyroid stimulating hormone (TSH) 238

thyroxine-binding globulin 191

tissue hypoxia 93

tolerance tests 267–268

tonal disorders 31, 45, 199, 204

   see also hypertonia; hypotonia

tongue, enlarged 73, 165

transaminases 209, 212, 216

transcortin 191

transferrin 191

transient hyperammonemia of the newborn (THAN) 200, 205–208

transplants 314–317

treatments

   accumulation of substrate 297–306

   cofactor replacement therapy 309–313

   diet 223–225, 238, 297–301, 319

   drugs 226

   enzyme replacement therapy 150, 174, 239, 308–309

   gene transfer therapy 314–318

   replacement of product 306–309

   response as a diagnostic tool 245

   result of screening 230

   supportive measures 318

   vitamins 226

trifunctional protein deficiency 147, 149

triglycerides 122, 123

   accumulation 118

triosephosphate isomerase deficiency 117

tuberous xanthomas 157, 159

tyrosine 133, 135, 217, 232, 248, 298, 302

tyrosine hydroxylase deficiency 71

ubiquinone deficiency 45

UDPgalactose 4-epimerase deficiency 216

uniparental isodisomy 9

uracil 301

urea cycle enzyme defects (UCED) 7, 56, 65, 199, 200, 205–208

   pregnant women 321

   treatment 207–208, 225, 226, 302, 304, 316

uridine diphosphate (UDP) glucuronosyltransferase deficiency 215

urine tests 233, 242, 246

   acylcarnitines 305

   amino acids 202, 208, 210, 233, 247–253

   copper 139

   ketones 126, 130, 198, 200, 203, 204, 212

   mucopolysaccharide 276–279

   nonglucose reducing substances 216

   oligosaccharides 38, 53, 149, 280–281

   organic acids 147, 185, 201, 202, 204, 210, 212, 214, 215, 217–219, 222, 244, 254–259

   pH 91–92

   pipecolic acid 294

   porphyrins 118, 260–263

   urine net charge 92

uveitis 184

valine 203, 301

valproic acid 112

ventricular arrhythmia 222

ventricular hypertrophy 151

ventricular tachycardia 143, 207

very long chain fatty acyl-CoA dehydrogenase (VLCAD) deficiency 155, 287

virus infections, congenital 170–173, 198

vision, impaired 38, 44, 45, 180

   see also eyes

vitamin administration 226, 309–313

vitamin B6 (pyroxidine) 35, 209, 226, 312

vitamin B12 107–108, 193, 264, 311, 312, 319

vitamin D 311, 319

vitamin K 313

vomiting 44, 61, 93, 109, 129, 131, 184, 191, 199

websites 21–26, 273–274

Wechsler Intelligence Scale 30

West syndrome 35

white matter

   hypomyelination 209

   leukodystrophy 47–50

Wilson disease 71, 83, 137–139

Wolff-Parkinson-White pre-excitation syndrome 153

Wolman disease 136–137, 220

women adult patients 319–321

   pregnancy in 320–321

xanthelasma 157

xanthine oxidase deficiency 209–210

X-linked disorders 11–13, 271–273, 293, 317

Zellweger syndrome 46, 163, 178–180, 195, 209, 293


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