As clinical 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. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.
PART A Metabolic pathways and their disorders in adults Section 1 Disorders of carbohydrate metabolism 1 Glycogen Storage Disorders David Cassiman, PascalLaforet, and Fanny Mochel 2 Galactosemia Annet M. Bosch and Elaine Murphy 3 Disorders of fructose metabolism Robin H. Lachmann and Timothy M. Cox. 4 Hyperinsulinemic hypoglycemia Jean-Baptiste Arnoux and Pascal de Lonlay 5 Glut1 Deficiency Joerg Klepper and Baerbel Leiendecker Section 2 Disorders of mitochondrial energry metabolism 6 Pyruvate dehydrogenase complex deficiency Mirian C.H. Janssen and Shamima Rahman 7 Disorders of mitochondrial energy metabolism Shamima Rahman and Mirian C.H. Janssen 8 Fatty acid oxidation, electron transfer and riboflavin transport defects Elaine Murphy, Christine Vianey-Saban, and Yann Nadjar 9 Disorders of ketogenesis and ketolysis Andrew A. M. Morris 10 Disorders of creatine metabolism David Cheillan and Frederuc Sedel 11 Coenzyme Q10 deficiency Shamima Rahman and Mirian C.H. Janssen Section 3 Disorders of protein metabolism 12 Phenylketonuria and Hyperphenylalaninaemia Francjan J. van Spronsen and Robin H. Lachmann 13 Tyrosinaemia type I David Cassiman and Wouter Meersseman 14 Tyrosinaemia type II Elaine Murphy 15 Alkaptonuria Wendy J. Introne 16 Branched Chain Amino Acids Helen Prunty, Jamie L. Fraser, Charles P. Venditti, and Robin H. Lachmann 17 Urea Cycle Disorders Stefan Koelker, Johannes Haberle and Valerie Walker 18 Citrin Deficiency Adam H. Buchaklian and David P. Dimmock 19 Cystathionine beta-synthase deficiency or classical homocystinuria Henk J Blom, Mirian C.H. Janssen, and Manuel Schiff 20 HHH syndrome Carlo Dionisi-Vici, Diego Martinelli, Enrico Bertini, and Claude Bachmann 21 Glutaric aciduria type I Stefan Koelker 22 2-hydroxyglutaric acidurias Eduard A. Struys, Marjo S. van de Knaap, and Gajja S. Salomons 23 Serine Deficiency Tom J. de Koning 24 Cystinuria Aude Servais and Bertrand Knebelmann 25 Lysinuric Protein Intolerance & Hartnup Disease Gianfranco Sebastio, Manuel Schiff, and Helene 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 Sedel, and Charles P. Vendetti 28 Disorders of thiamine metabolism Frederic Sedel and Carla E. M. Hollak Section 5 Neurotransmitters 29 Succinic Semialdehyde Dehydrogenase Deficiency K. Michael Gibson, Cornelis 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 Chylomicronemia: 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-I 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 Christopher Cunniff and Raoul C. Hennekam 39 Mevalonate kinase deficiency Joost Frenkel and Hans R. Waterham Section 8 Bile acid synthesis defects 40 Cerebrotendinous Xanthomatosis Aad Verrips 41 Spastic paraplegia type 5 Fanny Mochel Section 9 Disorders of purine and pyrimidine 42 Disorders of Purine Metabolism Affecting Adults Irene Ceballos-Picot and H. A. Jinnah Section 10 Porphyrias 43 Porphyrias Janneke G. Langendonk and Timothy M. Cox Section 11 Mineral and Metal Metabolism Disorders 44 Disorders of iron and copper metabolism Jean-Marc Trocello and France Woimant 45 Disorders of Manganese Metablolism Karin Tuschl, Peter T. Clayton, and Philippa B. Mills Section 12 Lysosomal storage diseases 46 Lysosomal Storage Disorders Ben Poorthuis 47 Gaucher Disease Carla Hollak 48 Niemann-Pick disease type B Tarekegn Geberhiwot and Carla E. M. Hollak 49 Fabry disease Michael West and Gabor Linthorst 50 Gangliosidoses (GM1 and GM2) Emmanuel Roze and Frederic Sedel 51 Krabbe disease in adults Frederic Sedel 52 Metachromatic Leukodystrophy Nicole Baumann and Jean-Claude Turpin 53 Niemann-Pick disease type C Frederic Sedel 54 Mucopolysaccharidosis (MPS) in Adults Christian J. Hendriksz and Francois Karstens 55 Pompe Disease Ans T. van der Ploeg and Pascal Laforet 56 Danon Disease Esther Brusse, Ans T van der Ploeg, Pascal Laforet 57 Oligosaccharidoses Antonio Federico and Silvia Palmeri 58 Cholesteryl Ester Storage Disease Carla E. M. Hollak 59 Neuronal Ceroid Lipofuscinoses Catherine Caillaud and Frederic Sedel 60 Nephropathic cystinosis in adults Aude Servais Section 13 Peroxisomal disorders 61 X-Linked Adrenoleukodystrophy Bjoern M. van Geel, Marc Engelen, and Stephan Kemp 62 Peroxisomal Disorders 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 Robin H. Lachmann and Nigel Manning 65 Primary Hyperoxaluria Jaap W. Groothoff 66 Disorders of complex lipids synthesis and remodeling Foudil Lamari and Jean-Marie Saudubray PART B Approach to the Patient Section 1 Clinical Presentations 67 Neurological and Psychiatric symptoms Frederic Sedel and Yann Nadjar 68 Chronic Fatigue and Acute Rhabdomyolysis Ros Quinlivan and Pascal Laforet 69 Brain MRI In Inherited Metabolic Diseases Of Adulthood Alessandro Burlina and Renzo Manara 70 Cardiac Aspects of IMDS Perry Elliott and Giuseppe Limongelli 71 Approach To The Patient With Respiratory Signs And Symptoms C.E.M. Hollak 72 Skeletal Abnormalities Carla E.M. Hollak 73 Approach to the patient with general symptoms: fatigue and fever Martijn C.G.J. Brouwers 74 Approach To The Patient With Hepato-Gastroenterological Or Abdominal Signs And Symptoms David Cassiman and Carla E.M. Hollak 75 Ophthalmic manifestations of Inherited Metabolic Disease Sarah Hull and Andrew R. Webster 76 Emergencies Robin H. Lachmann and Elaine Murphy 77 Hematological Abnormalities Carla E.M. Hollak Section 2 Biochemical presentations 78 Hyperammonemia Daniel Rabier 79 Approach To The Patient With Hyperhomocysteinaemia Anthony Briddon 80 Hypoglycemia Claire Douillard 81 Metabolic Acidosis Steve Krywawych 82 Abnormalities of CSF neurotransmitters/ folates Simon Heales, Simon Pope, Viruna Neergheen, and Manju Kurian Part C Interpretation of some common specialist metabolic tests 83 Amino Acids Daniel Rabier 84 Interpretation Of Organic Acid Analysis Results Marinus Duran and Isabel Tavares de Almeida 85 Interpretation Of Acylcarnitine Analysis Results Marinus Duran and Isabel Tavares de Almeida 86 Interpretation Of Very Long-Chain Fatty Acids Analysis Results Frederic M. Vaz and Ronald J.A. Wanders Part D Practical guidelines for the most prevalent disorders
Carla E. M. Hollak is Professor of Internal Medicine in the Division of Endocrinology and Metabolism at the University of Amsterdam and the Academic Medical Center (AMC). She heads the adult inherited metabolic unit at AMC, including the centers of excellence for Gaucher and Fabry disease and a rapidly growing service for adults with inborn errors of metabolism. Hollak regularly serves as expert for regulatory agencies both at a national and international level. She is chair of the Erfocentrum board, treasurer of the European Study Group on Lysosomal Diseases, and involved in activities of the European Working Group on Gaucher Disease and the Adult Metabolic Group for the Society for the Study of Inborn Errors of Metabolism. Robin Lachmann is Consultant in Metabolic Medicine at the National Hospital for Neurology and Neurosurgery, London, where he heads the Charles Dent Metabolic Unit. He is a member of the British Inherited Metabolic Disease Group and the Society for the Study of Inborn Errors of Metabolism, serving as chair of the latter's adult group. He is Chair of the Scientific Committee of the Recordati Rare Diseases Foundation, organizing training and education in rare diseases; Chair of the Metabolic Disorders Clinical Reference Group, which advises NHS England on metabolic services; and an elected member of Council of the Royal College of Physicians, London.
