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 DisordersDavid Cassiman, PascalLaforêt, and Fanny Mochel2 GalactosemiaAnnet M. Bosch and Elaine Murphy3 Disorders of fructose metabolismRobin H. Lachmann and Timothy M. Cox.4 Hyperinsulinemic hypoglycemiaJean-Baptiste Arnoux and Pascal de Lonlay5 Glut1 Deficiency Joerg Klepper and Baerbel LeiendeckerSection 2 Disorders of mitochondrial energry metabolism 6 Pyruvate dehydrogenase complex deficiencyMirian C.H. Janssen and Shamima Rahman7 Disorders of mitochondrial energy metabolismShamima 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 ketolysisAndrew A. M. Morris10 Disorders of creatine metabolismDavid Cheillan and Frédéruc Sedel11 Coenzyme Q10 deficiencyShamima Rahman and Mirian C.H. JanssenSection 3 Disorders of protein metabolism12 Phenylketonuria and HyperphenylalaninaemiaFrancjan J. van Spronsen and Robin H. Lachmann13 Tyrosinaemia type IDavid Cassiman and Wouter Meersseman14 Tyrosinaemia type IIElaine Murphy15 AlkaptonuriaWendy J. Introne16 Branched Chain Amino AcidsHelen Prunty, Jamie L. Fraser, Charles P. Venditti, and Robin H. Lachmann 17 Urea Cycle DisordersStefan Kölker, Johannes Häberle and Valerie Walker18 Citrin DeficiencyAdam H. Buchaklian and David P. Dimmock 19 Cystathionine beta-synthase deficiency or classical homocystinuriaHenk J Blom, Mirian C.H. Janssen, and Manuel Schiff20 HHH syndromeCarlo Dionisi-Vici, Diego Martinelli, Enrico Bertini, and Claude Bachmann21 Glutaric aciduria type IStefan Kölker22 2-hydroxyglutaric aciduriasEduard A. Struys, Marjo S. van de Knaap, and Gajja S. Salomons23 Serine DeficiencyTom J. de Koning 24 CystinuriaAude Servais and Bertrand Knebelmann25 Lysinuric Protein Intolerance & Hartnup DiseaseGianfranco Sebastio, Manuel Schiff, and Hélène Ogier de BaulnySection 4 Vitamin metabolism disorders26 Biotinidase Deficiency and Biotin Holocarboxylase Synthetase DeficiencyBarry Wolf and Sara Elrefai27 Disorders Of Cobalamin And Folate MetabolismJamie L. Fraser, Frédéric Sedel, and Charles P. Vendetti28 Disorders of thiamine metabolismFrédéric Sedel and Carla E. M. HollakSection 5 Neurotransmitters 29 Succinic Semialdehyde Dehydrogenase DeficiencyK. Michael Gibson, Cornelis Jakobs, and Philip L. Pearl30 Atypical Nonketotic HyperglycinemiaArgirios Dinopoulos31 Biogenic monoamine disordersEmmanuel Roze and Nenad Blau32 Brain Serotonin DeficiencyAngels García-Cazorla and Rafael Artuch IriberriSection 6 Dyslipidemias 33 Monogenic Chylomicronemia: Deficiency Of Lipoprotein Lipase And Related FactorsAmanda J. Brahm and Robert A. Hegele34 Familial Lecithin Cholesterol Acyl Transferase Deficiency SyndromesDominic S. Ng35 Tangier DiseaseDominic S. Ng36 Familial Apolipoprotein A-I DeficiencyDominic S. Ng37 Abetalipoproteinemia And HypobetalipoproteinemiaAmanda J. Hooper and John R. BurnettSection 7 Cholesterol synthesis disorders 38 Smith-Lemli-Opitz Syndrome Christopher Cunniff and Raoul C. Hennekam 39 Mevalonate kinase deficiencyJoost Frenkel and Hans R. WaterhamSection 8 Bile acid synthesis defects 40 Cerebrotendinous XanthomatosisAad Verrips41 Spastic paraplegia type 5Fanny MochelSection 9 Disorders of purine and pyrimidine 42 Disorders of Purine Metabolism Affecting AdultsIrène Ceballos-Picot and H. A. JinnahSection 10 Porphyrias 43 PorphyriasJanneke G. Langendonk and Timothy M. CoxSection 11 Mineral and Metal Metabolism Disorders 44 Disorders of iron and copper metabolismJean-Marc Trocello and France Woimant45 Disorders of Manganese MetablolismKarin Tuschl, Peter T. Clayton, and Philippa B. MillsSection 12 Lysosomal storage diseases 46 Lysosomal Storage DisordersBen Poorthuis47 Gaucher DiseaseCarla Hollak48 Niemann-Pick disease type B Tarekegn Geberhiwot and Carla E. M. Hollak49 Fabry diseaseMichael West and Gabor Linthorst50 Gangliosidoses (GM1 and GM2)Emmanuel Roze and Frédéric Sedel51 Krabbe disease in adultsFrédéric Sedel52 Metachromatic LeukodystrophyNicole Baumann and Jean-Claude Turpin53 Niemann-Pick disease type CFrédéric Sedel54 Mucopolysaccharidosis (MPS) in AdultsChristian J. Hendriksz and Francois Karstens55 Pompe DiseaseAns T. van der Ploeg and Pascal Laforet56 Danon DiseaseEsther Brusse, Ans T van der Ploeg, Pascal Laforêt57 OligosaccharidosesAntonio Federico and Silvia Palmeri58 Cholesteryl Ester Storage DiseaseCarla E. M. Hollak59 Neuronal Ceroid Lipofuscinoses Catherine Caillaud and Frédéric Sedel60 Nephropathic cystinosis in adultsAude Servais Section 13 Peroxisomal disorders 61 X-Linked AdrenoleukodystrophyBjörn M. van Geel, Marc Engelen, and Stephan Kemp62 Peroxisomal DisordersRonald J.A. Wanders and Hans R. WaterhamSection 14 Congenital Disorders of Glycosylation 63 Congenital disorders of glycosylationEva Morava and Mirian C.H. JanssenSection 15 Miscellaneous64 TrimethylaminuriaRobin H. Lachmann and Nigel Manning65 Primary HyperoxaluriaJaap W. Groothoff66 Disorders of complex lipids synthesis and remodelingFoudil Lamari and Jean-Marie SaudubrayPART B Approach to the Patient Section 1 Clinical Presentations 67 Neurological and Psychiatric symptomsFrederic 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 SymptomsC.E.M. Hollak72 Skeletal AbnormalitiesCarla E.M. Hollak73 Approach to the patient with general symptoms: fatigue and feverMartijn C.G.J. Brouwers 74 Approach To The Patient With Hepato-Gastroenterological Or Abdominal Signs And SymptomsDavid Cassiman and Carla E.M. Hollak75 Ophthalmic manifestations of Inherited Metabolic DiseaseSarah Hull and Andrew R. Webster 76 EmergenciesRobin H. Lachmann and Elaine Murphy77 Hematological Abnormalities Carla E.M. HollakSection 2 Biochemical presentations 78 HyperammonemiaDaniel Rabier79 Approach To The Patient With HyperhomocysteinaemiaAnthony Briddon80 HypoglycemiaClaire Douillard81 Metabolic AcidosisSteve Krywawych82 Abnormalities of CSF neurotransmitters/ folatesSimon Heales, Simon Pope, Viruna Neergheen, and Manju KurianPart C Interpretation of some common specialist metabolic tests 83 Amino AcidsDaniel Rabier84 Interpretation Of Organic Acid Analysis ResultsMarinus Duran and Isabel Tavares de Almeida85 Interpretation Of Acylcarnitine Analysis ResultsMarinus Duran and Isabel Tavares de Almeida86 Interpretation Of Very Long-Chain Fatty Acids Analysis ResultsFrédéric M. Vaz and Ronald J.A. WandersPart D Practical guidelines for the most prevalent disorders