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Inherited Metabolic Disease in Adults

Inherited Metabolic Disease in Adults

A Clinical Guide

9780199972135
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Description
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.
Product Details
OUP USA
87245
9780199972135
9780199972135

Data sheet

Publication date
2016
Issue number
1
Cover
hard cover
Pages count
650
Dimensions (mm)
216 x 279
Weight (g)
1585
  • PART A Metabolic pathways and their disorders in adults; Section 1 Disorders of carbohydrate metabolism; 1 Glycogen Storage Disorders; David Cassiman, PascalLafor?t, and Fanny Mochel; 2 Galactosemia; Annet M. Bosch and Elaine Murphy; 3 Disorders of fructose metabolism; 4 Hyperinsulinemic hypoglycemia; Arnoux JB and de Lonlay P; 5 Glut1 Deficiency; Joerg Klepper and Baerbel Leiendecker; Section 2 Disorders of mitochondrial energry metabolism; 6 Pyruvate dehydrogenase complex deficiency; Mirian Janssen and Shamima Rahman; 7 Disorders of mitochondrial energy metabolism; Mirian Janssen and Shamima Rahman; 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; D Cheillan and F Sedel; 11 Coenzyme Q10 deficiency; Shamima Rahman and Mirian Janssen; Section 3 Disorders of protein metabolism; 12 Phenylketonuria and Hyperphenylalaninaemia; Francjan J van Spronsen and Robin H Lachmann; 13 Tyrosinaemia type I; D. Cassiman and W. 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, Robin Lachmann; 17 Urea Cycle Disorders; Stefan Kölker, Johannes Häberle 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 CH Janssen, Manuel Schiff; 20 HHH syndrome; Carlo Dionisi-Vici, Diego Martinelli, Enrico Bertini, Claude Bachmann; 21 Glutaric aciduria type I; Stefan Kölker; 22 2-hydroxyglutaric acidurias; Eduard A Struys, Marjo S van de Knaap, Gajja S Salomons; 23 Serine Deficiency; Tom J de Koning and Frederic Sedel; 24 Cystinuria; Aude Servais and Bertrand Knebelmann; 25 Lysinuric Protein Intolerance & Hartnup Disease; Gianfranco Sebastio, Manuel Schiff, Hel?ne Ogier de Baulny; Section 4 Vitamin metabolism disorders; 26 Biotinidase deficiency and HCS; Barry Wolf and Sara Elrefai; 27 Disorders Of Cobalamin And Folate Metabolism; Brian Fowler and Frederic Sedel, Blom, Vendetti; 28 Disorders of thiamine metabolism; Frederic Sedel; Section 5 Neurotransmitters; 29 Succinic Semialdehyde Dehydrogenase Deficiency; K.M. Gibson, C. Jakobs, P.L. Pearl; 30 Atypical Nonketotic Hyperglycinemia; Argirios Dinopoulos; 31 Biogenic monoamine disorders; Emmanuel Roze and Nenad Blau; 32 Brain Serotonin Deficiency; Angeles 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 & 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, Hans 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; Ir?ne 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, France Woimant; 45 Manganese; Karin Tuschl; Section 12 Lysosomal storage diseases; 46 Lysosomal storage disorders: biochemical background, classification and laboratory diagnosis; Ben Poorthuis; 47 Gaucher Disease; Carla Hollak; 48 Niemann-Pick disease type B; Tarekegn Hiwot and Carla 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; Francois Karstens and Chris Hendriksz; 55 Pompe Disease; Ans van der Ploeg, Pascal Laforet; 56 Danon Disease; Esther Brusse, Ans T van der Ploeg, Pascal Lafor?t; 57 Oligosaccharidoses; Antonio Federico And Silvia Palmeri; 58 Cholesteryl Ester Storage Disease; Carla Hollak; 59 Ceroid lipofuscinoses; Frederic Sedel and Catherine Caillaud; 60 Nephropathic cystinosis in adults; Aude Servais; Section 13 Peroxisomal disorders; 61 AMN/ ALD; Marc Engelen, Bjorn van Geel, Stephan Kemp; 62 Peroxisome Biogenesis Disorders,; ACYL-CoA Oxidase 1 Deficiency, D-Bifunctional Protein Deficiency; Bwee Tien Poll-The, Ronald J.A. Wanders, H.R. Waterham; Section 14 CDGs; 63 Congenital disorders of glycosylation; Eva Morava and Mirian Janssen; Section 15 Miscellaneous; 64 Trimethylaminuria; Robin Lachmann and Nigel Manning; 65 Primary Hyperoxaluria; Jaap W. Groothoff; 66 Disorders of complex lipids synthesis and remodeling; Foudil Lamari, Frederic Sedel, Jean-Marie Saudubray; PART B Approach to Patient; Section 1 Clinical Presentations; 67 Neurological and Psychiatric symptoms; Frederic Sedel &Yann Nadjar; 68 Chronic Fatigue and Acute Rhabdomyolysis; Ros Quinlivan Pascal Laforet; 69 Brain MRI In Inherited Metabolic Diseases Of Adulthood; Alessandro Burlina, Renzo Manara; 70 Cardiac Aspects of IMDs; Perry Elliott; 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; D. Cassiman and C.E.M. Hollak; 75 Ophthalmic manifestations of Inherited Metabolic Disease; Sarah Hull and Andrew R Webster; 76 Emergencies; Robin Lachmann and Elaine Murphy; 77 Haematological Abnormalities; Carla Hollak; Section 2 Biochemical presentations; 78 Hyperammonemia; Daniel Rabier; 79 Approach To The Patient With Hyperhomocysteinaemia; Tony Briddon; 80 Hypoglycemia; Claire Douillard; 81 Metabolic Acidosis; Simon Heales and Steve Krywawych; 82 Abnormalities of CSF neurotransmitters/ folates; Simon Heales; Part C Interpretation of some common specialist metabolic tests; 83 Amino Acids; Daniel Rabier; 84 Interpretation Of Organic Acid Analysis Results; Marinus Duran, Isabel Tavares de Almeida; 85 Interpretation Of Acylcarnitine Analysis Results; Marinus Duran, Isabel Tavares de Almeida; 86 Interpretation Of Very Long-Chain Fatty Acids Analysis Results; Frederic M. Vaz & Ronald J.A. Wanders; Part D Practical guidelines for the most prevalent disorders;
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