Verfügbarkeit: Inherited metabolic disease in adults

Inherited metabolic disease in adults: a clinical guide

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Bibliographische Detailangaben
Weitere Verfasser:	Hollak, Carla E. M. (HerausgeberIn), Lachmann, Robin H. (HerausgeberIn)
Format:	Buch
Sprache:	English
Veröffentlicht:	New York, NY, United States of America Oxford University Press [2016]
Schriftenreihe:	Oxford monographs on medical genetics
Schlagworte:	Metabolism, Inborn Errors Adult Angeborene Krankheit Stoffwechselstörung Erwachsener
Online-Zugang:	Inhaltsverzeichnis Klappentext
Beschreibung:	Includes bibliographical references
Beschreibung:	xxii, 626 Seiten Illustrationen 29 cm
ISBN:	9780199972135 0199972133

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adam_text	CONTENTS Project for preface xi Introduction xiii Acknowledgements and Dedication XV Contributors xvii PART A METABOLIC PATHWAYS AND THEIR DISORDERS IN ADULTS SECTION 1 DISORDERS OF CARBOHYDRATE METABOLISM 1. GLYCOGEN STORAGE DISORDERS I David Cassiman, Pascal Laforet, and Fanny Mochel 2. GALACTOSEMIA 15 Annet M. Bosch and Elaine Murphy 3. DISORDERS OF FRUCTOSE METABOLISM 25 Robin H. Lachmann and Timothy M. Cox 4. HYPERINSULINEMIC HYPOGLYCEMIA 29 Jean-Baptiste Arnoux and Pascal de Lonlay 5. GLUT1 DEFICIENCY 35 Joerg Klepper and Baerbel Leiendecker SECTION 2 DISORDERS OF MITOCHONDRIAL ENERGRY METABOLISM 6. PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY 41 Mirian C. H. Janssen and Shamima Rahman 7. DISORDERS OF MITOCHONDRIAL ENERGY METABOLISM 45 Shamima Rahman and Mirian C. H. Janssen 8. FATTY ACID OXIDATION, ELECTRON TRANSFER AND RIBOFLAVIN METABOLISM DEFECTS 55 Elaine Murphy, Yann Nadjar, and Christine Vianey-Saban 9. DISORDERS OF KETOGENESIS AND KETOLYSIS 69 Andrew A. M. Morris 10. DISORDERS OF CREATINE METABOLISM 73 David Cheillan and Frédéric Sedel 11. COENZYME Q10 DEFICIENCY 77 Shamima Rahman and Mirian C. H. Janssen SECTION 3 DISORDERS OF PROTEIN METABOLISM 12. PHENYLKETONURIA AND HYPERPHENYLALANINEMIA 85 Francjan J. van Spronsen and Robin H. Lachmann 13. TYROSINEMIA TYPE I 93 David Cassiman and Wouter Meersseman 14. TYROSINEMIA TYPE II 97 Elaine Murphy 15. ALKAPTONURIA 101 Wendy J. Introne 16. BRANCHED CHAIN AMINO ACIDS 105 Helen Prunty, Jamie L. Fraser, Charles P. Venditti, and Robin H. Lachmann 17. UREA CYCLE DISORDERS 119 Stefan Kölker, Johannes Häberle, and Valerie Walker 18. CITRIN DEFICIENCY 127 Adam H. Buchaklian and David P. Dimmock 19. CYSTATHIONINE BETA-SYNTHASE DEFICIENCY OR CLASSICAL HOMOCYSTINURIA 131 Henk J. Blom, Mirian C. H. Janssen, and Manuel Schiff 20. HHH SYNDROME 137 Carlo Dionisi-Vici, Diego Martinelli, Enrico Bertini, and Claude Bachmann 21. GLUTARIC ACIDURIA TYPE I 141 Stefan Kölker 22. 2-HYDROXYGLUTARIC ACIDURIAS 145 Eduard A. Struys, Marjo S. van der Knaap, and Gajja S. Salomons 23. SERINE DEFICIENCY 149 Tom J. de Koning CONTENTS I V 24. CYSTINURIA Aude Servais and Bertrand Knebelmann 25. LYSINURIC PROTEIN INTOLERANCE AND HARTNUP DISEASE Gianfranco Sebastio, Manuel Schifi, and Hélène Ogier de Baulny SECTION 4 VITAMIN METABOLISM DISORDERS 26. BIOTINIDASE DEFICIENCY AND BIOTIN HOLOCARBOXYLASE SYNTHETASE DEFICIENCY Barry Wolf and Sara Elrefai 27. DISORDERS OF COBALAMIN AND FOLATE METABOLISM Jamie L. Fraser, Frederic Sedei, and Charles P. Vendetti 28. DISORDERS OF THIAMINE METABOLISM Frederic Sedei and Carla E. M. Hollak SECTION 5 NEUROTRANSMITTERS 29. SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY K. Michael Gibson, Cornells Jakobs, and Philip L. Pearl 30. ATYPICAL NONKETOTIC HYPERGLYCINEMIA Argirios Dinopoulos 31. BIOGENIC MONOAMINE DISORDERS Emmanuel Roze and Nenad Blau 32. BRAIN SEROTONIN DEFICIENCY Angels Garcia-Cazorla and Rafael Artuch Iriberri SECTION 6 DYSLIPIDEMIAS 33. MONOGENIC CHYLOMICRON EM I A: DEFICIENCY OF LIPOPROTEIN LIPASE AND RELATED FACTORS Amanda J. Brahm and Robert A. Hegele 34. FAMILIAL LECITHIN CHOLESTEROL ACYL TRANSFERASE DEFICIENCY SYNDROMES Dominic S. Ng 35. TANGIER DISEASE Dominic S. Ng 36. FAMILIAL APOLIPOPROTEIN A-l DEFICIENCY Dominic S. Ng 37. ABETALIPOPROTEINEMIA AND HYPOBETALIPOPROTEINEMIA Amanda J. Hooper and John R. Burnett SECTION 7 CHOLESTEROL SYNTHESIS DISORDERS 38. SMITH-LEMLI-OPITZ SYNDROME 231 Christopher Cunniff and Raoul C. Hennekam 39. MEVALONATE KINASE DEFICIENCY 235 Joost Frenkel and Hans R. Waterham SECTION 8 BILE ACID SYNTHESIS DEFECTS 40. CEREBROTENDINOUS XANTHOMATOSIS 241 Aad Verrips 41. SPASTIC PARAPLEGIA TYPE 5 247 Fanny Mochel SECTION 9 DISORDERS OF PURINE METABOLISM 42. DISORDERS OF PURINE METABOLISM AFFECTING ADULTS 251 Irene Ceballos-Picot and H. A. Jînnah SECTION 10 PORPHYRIAS 43. PORPHYRIAS 267 Janneke G. Langendonk and Timothy M. Cox SECTION 11 MINERAL AND METAL METABOLISM DISORDERS 44. DISORDERS OF COPPER AND IRON METABOLISM 283 Jean-Marc Trocello and France Woimant 45. DISORDERS OF MANGANESE METABOLISM 291 Karin Tuschl, Peter T. Clayton, and Philippa B. Mills SECTION 12 LYSOSOMAL STORAGE DISEASES 46. LYSOSOMAL STORAGE DISORDERS 297 Ben Poorthuis 47. GAUCHER DISEASE 305 Carla E. M. Hollak 48. NIEMANN-PICK DISEASE TYPE B 313 Tarekegn Geberhiwot and Carla E. M. Hollak 155 159 167 171 181 189 193 203 209 215 219 221 223 225 vi I CONTENTS 49. FABRY DISEASE Michael West and Gabor Linthorst 50. GANGLIOSIDOSES (GM1 AND GM2) Emmanuel Roze and Frédéric Sedel 51. KRABBE DISEASE IN ADULTS Frédéric Sedel 52. METACHROMATIC LEUKODYSTROPHY Nicole Baumann and Jean-Claude Turpin 53. NIEMANN-PICK DISEASE TYPE C Frédéric Sedel 54. MUCOPOLYSACCHARIDOSIS IN ADULTS Christian J. Hendriksz and Francois Karstens 55. POMPE DISEASE Ans T. van der Ploeg and Pascal Laforêt 56. DANON DISEASE Esther B russe, Pascal Lafôret, and Ans T. van der Ploeg 57 OLIGOSACCHARIDOSES Antonio Federico and Silvia Palmeri 58. CHOLESTERYL ESTER STORAGE DISEASE Carla E. M. Hollak 59. NEURONAL CEROID LIPOFUSCINOSES Catherine Caillaud and Frédéric Sedel 60. NEPHROPATHIC CYSTINOSIS IN ADULTS Aude Servais SECTION 13 PEROXISOMAL DISORDERS 61. X-LINKED ADRENOLEUKODYSTROPHY Björn M. van Geel, Marc Engelen, and Stephan Kemp 62. PEROXISOMAL DISORDERS Bwee Tien Poll-The, Ronald J. A. Wanders, and Hans R. Waterham SECTION 14 CONGENITAL DISORDERS OF GLYCOSYLATION 63. CONGENITAL DISORDERS OF GLYCOSYLATION Eva Morava and Mirian C. H. Janssen SECTION 15 MISCELLANEOUS 64. TRIMETHYLAMINURIA 417 Robin H. Lachmann and Nigel Manning 65. PRIMARY HYPEROXALURIA 421 Jaap W. Groothoff 66. DISORDERS OF COMPLEX LIPIDS SYNTHESIS AND REMODELING 427 Foudil Lamari and Jean-Marie Saudubray PART B APPROACH TO THE PATIENT SECTION 1 CLINICAL PRESENTATIONS 67. NEUROLOGICAL AND PSYCHIATRIC SYMPTOMS 439 Frédéric Sedel and Yann Nadjar 68. CHRONIC FATIGUE AND ACUTE RHABDOMYOLYSIS 453 Ros Quinlivan and Pascal Laforêt 69. BRAIN MRI IN INHERITED METABOLIC DISEASES OF ADULTHOOD 461 Alessandro Burlina and Renzo Manara 70. CARDIAC ASPECTS OF INHERITED METABOLIC DISEASES 471 Perry Elliott and Giuseppe Limongelli 71. APPROACH TO THE PATIENT WITH RESPIRATORY SIGNS AND SYMPTOMS 481 Carla E. M. Hollak 72. SKELETAL ABNORMALITIES 485 Carla E. M. Hollak 73. APPROACH TO THE PATIENT WITH GENERAL SYMPTOMS: FATIGUE AND FEVER 489 Martijn C. G. J. Brouwers 74. APPROACH TO THE PATIENT WITH HEPATO-GASTROENTEROLOGICAL OR ABDOMINAL SIGNS AND SYMPTOMS 493 David Cassiman and Carla E. M. Hollak 75. OPHTHALMIC MANIFESTATIONS OF INHERITED METABOLIC DISEASES 499 Sarah Hull and Andrew R. Webster 76. EMERGENCIES 505 Robin H. Lachmann and Elaine Murphy 77. HEMATOLOGICAL ABNORMALITIES 509 Carla E. M. Hollak 317 325 329 333 337 343 353 359 363 373 377 381 387 395 409 CONTENTS \| vii SECTION 2 BIOCHEMICAL PRESENTATIONS 78. HYPERAMMONEMIA 515 Daniel Rabier 79. APPROACH TO THE PATIENT WITH HYPERHOMOCYSTEINEMIA 523 Anthony Briddon 80. HYPOGLYCEMIA 527 Claire Douillard 81. METABOLIC ACIDOSIS 533 Steve Krywawych 82. ABNORMALITIES OF CSF NEUROTRANSMITTERS/ FOLATES 541 Simon Heales, Simon Pope, Viruna Neergheen, and Manju Kurian PART C INTERPRETATION OF SOME COMMON SPECIALIST METABOLIC TESTS 83. AMINO ACIDS 555 Daniel Rabier 84. INTERPRETATION OF ORGANIC ACID ANALYSIS RESULTS 565 Marinus Duran and Isabel Tavares de Almeida 85. INTERPRETATION OF ACYLCARNITINE ANALYSIS RESULTS 569 Marinus Duran and Isabel Tavares de Almeida 86. INTERPRETATION OF VERY-LONG-CHAIN FATTY ACIDS ANALYSIS RESULTS 573 Frédéric M. Vaz and Ronald J. A. Wanders PART D PRACTICAL GUIDELINES FOR THE MOST PREVALENT DISORDERS HEREDITARY FRUCTOSE INTOLERANCE - CHAPTER 3 579 PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY - CHAPTER 6 579 DISORDERS OF MITOCHONDRIAL ENERGY METABOLISM - CHAPTER 7 580 FATTY ACID OXIDATION DISORDERS ֊ CHAPTER 8 580 DISORDERS OF CREATINE METABOLISM - CHAPTER 10 581 COENZYME Q10 DEFICIENCY - CHAPTER 11 582 PHENYLKETONURIA - CHAPTER 12 582 ALKAPTONURIA - CHAPTER 15 583 BRANCHED CHAIN AMINO ACIDS: MAPLE SYRUP URINE DISEASE - CHAPTER 16 583 BRANCHED CHAIN AMINO ACIDS: METHYLMALONIC ACIDEMIA - CHAPTER 16 583 BRANCHED CHAIN AMINO ACIDS: PROPIONIC ACIDEMIA - CHAPTER 16 584 BRANCHED CHAIN AMINO ACIDS: ISOVALERIC ACIDEMIA - CHAPTER 16 584 UREA CYCLE DEFECTS - CHAPTER 17 585 CITRIN DEFICIENCY-CHAPTER 18 586 CYSTATHIONINE BETA-SYNTHASE DEFICIENCY OR CLASSICAL HOMOCYSTINURIA- CHAPTER 19 587 HHH SYNDROME - CHAPTER 20 587 GLUTARIC ACIDURIA TYPE I ֊ CHAPTER 21 588 SERINE METABOLISM, SERINE DEFICIENCY- CHAPTER 23 590 LYSINURIC PROTEIN INTOLERANCE - CHAPTER 25 591 BRAIN SEROTONIN DEFICIENCY - CHAPTER 32 592 MONOGENIC CHYLOMICRON EM IA - CHAPTER 33 593 LCAT DEFICIENCY AND FISH EYE DISEASE - CHAPTER 34 593 TANGIER DISEASE - CHAPTER 35 594 APOLIPOPROTEIN A- I DEFICIENCY - CHAPTER 36 595 ABETALIPOPROTEINEMIA AND HYPOBETAUPOPROTEINEMIA CLINICAL - CHAPTER 37 595 SMITH-LEMLI-OPITZ SYNDROME - CHAPTER 38 596 MEVALONATE KINASE DEFICIENCY - CHAPTER 39 597 CEREBROTENDINOUS XANTHOMATOSIS - CHAPTER 40 598 ACUTE PORPHYRIAS - CHAPTER 43 598 CUTANEOUS PORPHYRIAS - CHAPTER 43 599 GAUCHER DISEASE - CHAPTER 47 601 NIEMANN- PICK DISEASE TYPE B - CHAPTER 48 602 FABRY DISEASE - CHAPTER 49 603 METACHROMATIC LEUKODYSTROPHY - CHAPTER 52 604 NIEMANN PICK TYPE C - CHAPTER 53 604 MPS DISEASE - CHAPTER 54 605 vili I CONTENTS POMPE DISEASE - CHAPTER 55 606 DANON DISEASE ֊ CHAPTER 56 607 CHOLESTERYL ESTER STORAGE DISEASE - CHAPTER 58 608 NEURONAL CEROID LIPOFUSCINOSES - CHAPTER 59 608 CYSTINOSIS ֊ CHAPTER 60 609 X-ALD/AM N ֊ CHAPTER 61 610 PEROXISOMAL DISORDERS: ACYL-COA OXIDASE 1 DEFICIENCY, D-BIFUNCTIONAL PROTEIN DEFICIENCY- CHAPTER 62 611 PEROXISOMAL DISORDERS: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA (RCDP) SPECTRUM, TYPES 1, 2 AND 3- CHAPTER 62 612 CONGENITAL DISORDERS OF GLYCOSYLATION ֊ CHAPTER 63 613 TRIMETHYLAMINURIA ֊ CHAPTER 64 614 HYPEROXALURIA - CHAPTER 65 615 Index 617 CONTENTS \| ix As ciinicaf management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. This volume contains sections dedicated to: • Biochemistry, clinical features, diagnosis, and management, with emphasis on the adult patient and the progress of disease in adult life • Management of both acute metabolic decompensation and long-term complications • A metabolic approach to different clinical and biochemical presentations: What are the possible metabolic causes of neurological or cardiac disease? What conditions should be looked for in a patient presenting with metabolic acidosis, hyperammonemia or hypoglycemia? • Guidelines for interpreting a number of specialist biochemical tests (e.g., how do plasma amino acid or acyl carnitine profiles help in patient diagnosis and management?) • Brief, easily accessible management guidelines for the most common conditions of this type, formatted for quick reference and maximum clinical efficiency Inherited Metabolic Diseases in Adults is the first book to give a clear and concise overview of how this group of conditions affects adult patients. It is an invaluable resource for recognizing and managing this important and diverse family of diseases. ABOUT THE EDITORS Carla E. ML Hollak, MID, is Professor of Internal Medicine in the Division of Endocrinology and Metabolism at the University of Amsterdam and the Academic Medical Center. Robin H. Lachmann, PhD, is Consultant in Metabolic Medicine at the National Hospital for Neurology and Neurosurgery, London, where he heads the Charles Dent Metabolic Unit.
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series2	Oxford monographs on medical genetics
spelling	Inherited metabolic disease in adults a clinical guide edited by Carla E. M. Hollak, Robin H. Lachmann New York, NY, United States of America Oxford University Press [2016] xxii, 626 Seiten Illustrationen 29 cm txt rdacontent n rdamedia nc rdacarrier Oxford monographs on medical genetics Includes bibliographical references Metabolism, Inborn Errors Adult Angeborene Krankheit (DE-588)4331107-6 gnd rswk-swf Stoffwechselstörung (DE-588)4057701-6 gnd rswk-swf Erwachsener (DE-588)4015431-2 gnd rswk-swf Erwachsener (DE-588)4015431-2 s Stoffwechselstörung (DE-588)4057701-6 s Angeborene Krankheit (DE-588)4331107-6 s DE-604 Hollak, Carla E. M. (DE-588)1072323273 edt Lachmann, Robin H. edt Digitalisierung UB Regensburg - ADAM Catalogue Enrichment application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=029771457&sequence=000003&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis Digitalisierung UB Regensburg - ADAM Catalogue Enrichment application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=029771457&sequence=000004&line_number=0002&func_code=DB_RECORDS&service_type=MEDIA Klappentext
spellingShingle	Inherited metabolic disease in adults a clinical guide Metabolism, Inborn Errors Adult Angeborene Krankheit (DE-588)4331107-6 gnd Stoffwechselstörung (DE-588)4057701-6 gnd Erwachsener (DE-588)4015431-2 gnd
subject_GND	(DE-588)4331107-6 (DE-588)4057701-6 (DE-588)4015431-2
title	Inherited metabolic disease in adults a clinical guide
title_auth	Inherited metabolic disease in adults a clinical guide
title_exact_search	Inherited metabolic disease in adults a clinical guide
title_full	Inherited metabolic disease in adults a clinical guide edited by Carla E. M. Hollak, Robin H. Lachmann
title_fullStr	Inherited metabolic disease in adults a clinical guide edited by Carla E. M. Hollak, Robin H. Lachmann
title_full_unstemmed	Inherited metabolic disease in adults a clinical guide edited by Carla E. M. Hollak, Robin H. Lachmann
title_short	Inherited metabolic disease in adults
title_sort	inherited metabolic disease in adults a clinical guide
title_sub	a clinical guide
topic	Metabolism, Inborn Errors Adult Angeborene Krankheit (DE-588)4331107-6 gnd Stoffwechselstörung (DE-588)4057701-6 gnd Erwachsener (DE-588)4015431-2 gnd
topic_facet	Metabolism, Inborn Errors Adult Angeborene Krankheit Stoffwechselstörung Erwachsener
url	http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=029771457&sequence=000003&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=029771457&sequence=000004&line_number=0002&func_code=DB_RECORDS&service_type=MEDIA
work_keys_str_mv	AT hollakcarlaem inheritedmetabolicdiseaseinadultsaclinicalguide AT lachmannrobinh inheritedmetabolicdiseaseinadultsaclinicalguide

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