A unique source of reference information for both laboratory and clinical practice
Highlights clinical findings, age-related pathological values for diagnostic metabolites, and the role of biochemical genetic testing
Offers step-by-step algorithms for diagnosis
Outlines established and experimental therapies
Complements other major texts in the field

This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician's Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.

Table of contents (55 chapters)
Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism
Blau, Nenad (et al.)
Pages 3-21
Tyrosine Metabolism
Holme, Elisabeth (et al.)
Pages 23-31
Sulphur Amino Acids
Baric, Ivo (et al.)
Pages 33-46
Hyperammonemias and Related Disorders
Häberle, Johannes (et al.)
Pages 47-62
Disorders of Glycine, Serine, GABA, and Proline Metabolism
Hove, Johan L. K. (et al.)
Pages 63-83
Amino Acid Transport Defects
Palacín, Manuel (et al.)
Pages 85-99
Disorders of Leucine, Isoleucine, and Valine Metabolism
Knerr, Ina (et al.)
Pages 103-141
Cerebral Organic Acidurias
Kölker, Stefan (et al.)
Pages 143-156
Ethylmalonic Encephalopathy
Burlina, Alberto (et al.)
Pages 157-163
Disorders of Folate Metabolism and Transport
Scaglia, Fernando (et al.)
Pages 167-178
Vitamin B6-Dependent and Responsive Disorders
Plecko, Barbara (et al.)
Pages 179-190
Molybdenum Cofactor Disorders
Schwarz, Günter (et al.)
Pages 191-203
Vitamin B12 Disorders
Baumgartner, Matthias R. (et al.)
Pages 205-218
Biotin Disorders
Barshop, Bruce A.
Pages 219-225
Thiamine Disorders
Sedel, Frédéric
Pages 227-232
Riboflavin and CoQ Disorders
Horvath, Rita (et al.)
Pages 233-244
Mitochondrial Fatty Acid Oxidation Disorders
Spiekerkoetter, Ute (et al.)
Pages 247-264
Disorders of Carbohydrate Metabolism and Glucose Transport
Santer, René (et al.)
Pages 265-301
Pyruvate Carboxylase and Pyruvate Dehydrogenase Deficiency
Meirleir, Linda
Pages 303-311
Disorders of the Krebs Cycle
Morava, Eva (et al.)
Pages 313-322
Hyperinsulinism
Hussain, Khalid (et al.)
Pages 323-336
Mitochondrial Oxidative Phosphorylation Disorders
Laat, Paul (et al.)
Pages 337-359
Disorders of Ketone Body Metabolism
Sass, Jörn Oliver (et al.)
Pages 361-371
Peroxisomal Disorders
Poll-The, Bwee Tien (et al.)
Pages 375-397
Lysosomal Storage Disorders Including Neuronal Ceroid Lipofuscinoses
Hollak, Carla (et al.)
Pages 399-435
Oligosaccharidoses and Sialic Acid Disorders
Lukacs, Zoltan (et al.)
Pages 437-448
The Mucopolysaccharidoses
Parenti, Giancarlo
Pages 449-464
Hyperoxalurias
Hoppe, Bernd (et al.)
Pages 465-474
Cystinosis
Levtchenko, Elena (et al.)
Pages 475-482
Congenital Disorders of Glycosylation
Jaeken, Jaak (et al.)
Pages 483-512
Neurotransmitter Disorders
Opladen, Thomas (et al.)
Pages 515-528
Creatine Disorders
Stöckler, Sylvia (et al.)
Pages 529-540
Heme Synthesis Defects and Porphyrias
Stölzel, Ulrich (et al.)
Pages 541-554
Disorders of Bile Acid Synthesis and Biliary Transport
Lemonde, Hugh A. (et al.)
Pages 555-576
Disorders of Polyol Metabolism
Wamelink, Mirjam M. C. (et al.)
Pages 577-583
Cholesterol Synthesis Disorders
Kelley, Richard I. (et al.)
Pages 585-600
Disorders of Adrenals and Gonads
Lauber-Biason, Anna
Pages 601-616
Leukotrienes
Mayatepek, Ertan
Pages 617-622
Disorders of Copper and Zinc Metabolism
Hasselt, Peter M. (et al.)
Pages 623-632
Iron Metabolism Disorders
Fellman, Vineta
Pages 633-640
Purine and Pyrimidine Disorders
Bierau, Jörgen (et al.)
Pages 641-660
Disorders of Glutathione and ?-Glutamyl Cycle
Blau, Nenad (et al.)
Pages 661-669
Disorders of Lipoprotein Metabolism
Hegele, Robert A. (et al.)
Pages 671-689
Biochemical Phenotypes of Questionable Clinical Significance
Goodman, Stephen I. (et al.)
Pages 691-705
Emergency Diagnostic Procedures and Emergency Treatment
Grünewald, Stephanie (et al.)
Pages 709-717
Newborn Screening for Inborn Errors of Metabolism
Greene, Carol L. (et al.)
Pages 719-735
Genetic Counseling for Inborn Errors of Metabolism
Zschocke, Johannes (et al.)
Pages 737-742
Simple Tests
Gibson, K. Michael (et al.)
Pages 743-747
Amino Acids
Pasquali, Marzia (et al.)
Pages 749-759
Organic Acids
Almeida, Isabel Tavares (et al.)
Pages 761-773
Acylcarnitines
Matern, Dietrich
Pages 775-784
Lysosomals
Marca, Giancarlo
Pages 785-793
Proton NMR Spectroscopy of Body Fluids
Engelke, Udo (et al.)
Pages 795-801
MRI and In Vivo Spectroscopy of the Brain
Burlina, Alessandro (et al.)
Pages 803-815
SSIEM Classification of Inborn Errors of Metabolism
Zschocke, Johannes