Inherited Metabolic Disease in Adults

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.

• PART A Metabolic pathways and their disorders in adults Section 1 Disorders of carbohydrate metabolism 1 Glycogen Storage Disorders David Cassiman, PascalLaforêt, and Fanny Mochel2 Galactosemia Annet M. Bosch and Elaine Murphy3 Disorders of fructose metabolismRobin H. Lachmann and Timothy M. Cox.4 Hyperinsulinemic hypoglycemia Jean-Baptiste Arnoux and Pascal de Lonlay5 Glut1 Deficiency Joerg Klepper and Baerbel LeiendeckerSection 2 Disorders of mitochondrial energry metabolism 6 Pyruvate dehydrogenase complex deficiency Mirian C.H. Janssen and Shamima Rahman7 Disorders of mitochondrial energy metabolism Shamima Rahman and Mirian C.H. Janssen8 Fatty acid oxidation, electron transfer and riboflavin transport defects Elaine Murphy, Christine Vianey-Saban, and Yann Nadjar9 Disorders of ketogenesis and ketolysis Andrew A. M. Morris10 Disorders of creatine metabolism David Cheillan and Frédéruc Sedel11 Coenzyme Q10 deficiency Shamima Rahman and Mirian C.H. JanssenSection 3 Disorders of protein metabolism 12 Phenylketonuria and Hyperphenylalaninaemia Francjan J. van Spronsen and Robin H. Lachmann13 Tyrosinaemia type I David Cassiman and Wouter Meersseman14 Tyrosinaemia type II Elaine Murphy15 Alkaptonuria Wendy J. Introne16 Branched Chain Amino Acids Helen Prunty, Jamie L. Fraser, Charles P. Venditti, and Robin H. Lachmann 17 Urea Cycle Disorders Stefan Kölker, Johannes Häberle and Valerie Walker18 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 Schiff20 HHH syndrome Carlo Dionisi-Vici, Diego Martinelli, Enrico Bertini, and Claude Bachmann21 Glutaric aciduria type I Stefan Kölker22 2-hydroxyglutaric acidurias Eduard A. Struys, Marjo S. van de Knaap, and Gajja S. Salomons23 Serine DeficiencyTom J. de Koning 24 Cystinuria Aude Servais and Bertrand Knebelmann25 Lysinuric Protein Intolerance & Hartnup Disease Gianfranco Sebastio, Manuel Schiff, and Hélène Ogier de BaulnySection 4 Vitamin metabolism disorders26 Biotinidase Deficiency and Biotin Holocarboxylase Synthetase Deficiency Barry Wolf and Sara Elrefai27 Disorders Of Cobalamin And Folate Metabolism Jamie L. Fraser, Frédéric Sedel, and Charles P. Vendetti28 Disorders of thiamine metabolism Frédéric Sedel and Carla E. M. HollakSection 5 Neurotransmitters 29 Succinic Semialdehyde Dehydrogenase Deficiency K. Michael Gibson, Cornelis Jakobs, and Philip L. Pearl30 Atypical Nonketotic Hyperglycinemia Argirios Dinopoulos31 Biogenic monoamine disorders Emmanuel Roze and Nenad Blau32 Brain Serotonin Deficiency Angels García-Cazorla and Rafael Artuch IriberriSection 6 Dyslipidemias 33 Monogenic Chylomicronemia: Deficiency Of Lipoprotein Lipase And Related Factors Amanda J. Brahm and Robert A. Hegele34 Familial Lecithin Cholesterol Acyl Transferase Deficiency Syndromes Dominic S. Ng35 Tangier Disease Dominic S. Ng36 Familial Apolipoprotein A-I Deficiency Dominic S. Ng37 Abetalipoproteinemia And Hypobetalipoproteinemia Amanda J. Hooper and John R. BurnettSection 7 Cholesterol synthesis disorders 38 Smith-Lemli-Opitz Syndrome Christopher Cunniff and Raoul C. Hennekam 39 Mevalonate kinase deficiency Joost Frenkel and Hans R. WaterhamSection 8 Bile acid synthesis defects 40 Cerebrotendinous Xanthomatosis Aad Verrips41 Spastic paraplegia type 5 Fanny MochelSection 9 Disorders of purine and pyrimidine 42 Disorders of Purine Metabolism Affecting AdultsIrène Ceballos-Picot and H. A. JinnahSection 10 Porphyrias 43 Porphyrias Janneke G. Langendonk and Timothy M. CoxSection 11 Mineral and Metal Metabolism Disorders 44 Disorders of iron and copper metabolism Jean-Marc Trocello and France Woimant45 Disorders of Manganese Metablolism Karin Tuschl, Peter T. Clayton, and Philippa B. MillsSection 12 Lysosomal storage diseases 46 Lysosomal Storage Disorders Ben Poorthuis47 Gaucher Disease Carla Hollak48 Niemann-Pick disease type B Tarekegn Geberhiwot and Carla E. M. Hollak49 Fabry disease Michael West and Gabor Linthorst50 Gangliosidoses (GM1 and GM2) Emmanuel Roze and Frédéric Sedel51 Krabbe disease in adultsFrédéric Sedel52 Metachromatic Leukodystrophy Nicole Baumann and Jean-Claude Turpin53 Niemann-Pick disease type C Frédéric Sedel54 Mucopolysaccharidosis (MPS) in Adults Christian J. Hendriksz and Francois Karstens55 Pompe Disease Ans T. van der Ploeg and Pascal Laforet56 Danon Disease Esther Brusse, Ans T van der Ploeg, Pascal Laforêt57 Oligosaccharidoses Antonio Federico and Silvia Palmeri58 Cholesteryl Ester Storage Disease Carla E. M. Hollak59 Neuronal Ceroid Lipofuscinoses Catherine Caillaud and Frédéric Sedel60 Nephropathic cystinosis in adults Aude Servais Section 13 Peroxisomal disorders 61 X-Linked Adrenoleukodystrophy Björn M. van Geel, Marc Engelen, and Stephan Kemp62 Peroxisomal Disorders Ronald J.A. Wanders and Hans R. WaterhamSection 14 Congenital Disorders of Glycosylation 63 Congenital disorders of glycosylation Eva Morava and Mirian C.H. JanssenSection 15 Miscellaneous 64 Trimethylaminuria Robin H. Lachmann and Nigel Manning65 Primary Hyperoxaluria Jaap W. Groothoff66 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 Nadjar68 Chronic Fatigue and Acute Rhabdomyolysis Ros Quinlivan and Pascal Lafôret69 Brain MRI In Inherited Metabolic Diseases Of Adulthood Alessandro Burlina and Renzo Manara70 Cardiac Aspects of IMDS Perry Elliott and Giuseppe Limongelli71 Approach To The Patient With Respiratory Signs And Symptoms C.E.M. Hollak72 Skeletal Abnormalities Carla E.M. Hollak73 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. Hollak75 Ophthalmic manifestations of Inherited Metabolic DiseaseSarah Hull and Andrew R. Webster 76 Emergencies Robin H. Lachmann and Elaine Murphy77 Hematological Abnormalities Carla E.M. HollakSection 2 Biochemical presentations 78 HyperammonemiaDaniel Rabier79 Approach To The Patient With Hyperhomocysteinaemia Anthony Briddon80 Hypoglycemia Claire Douillard81 Metabolic Acidosis Steve Krywawych82 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 Rabier84 Interpretation Of Organic Acid Analysis Results Marinus Duran and Isabel Tavares de Almeida85 Interpretation Of Acylcarnitine Analysis Results Marinus Duran and Isabel Tavares de Almeida86 Interpretation Of Very Long-Chain Fatty Acids Analysis Results Frédéric M. Vaz and Ronald J.A. Wanders Part D Practical guidelines for the most prevalent disorders