Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases

Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. Reference laboratory data are scattered and clinical descriptions of rare conditions are hard to locate. This book describes 298 disorders, grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are four indices to make the book as user-friendly as possible: Disorders index, Signs and symptoms index, Organs index, and Tests index. The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. The book includes a CD-ROM with search function. Front Matter....Pages I-XXXVII Front Matter....Pages 1-1 Simple Tests in Urine and Blood....Pages 3-10 Amino Acid Analysis....Pages 11-26 Organic Acid Analysis....Pages 27-44 Miscellaneous Analyses....Pages 45-55 Tandem Mass Spectrometry in Clinical Diagnosis....Pages 57-75 Proton NMR Spectroscopy of Body Fluids....Pages 77-85 Front Matter....Pages 87-87 Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism....Pages 89-106 Disorders of Neurotransmitter Metabolism....Pages 107-122 Disorders of GABA, Glycine, Serine and Proline....Pages 123-140 Disorders of Tyrosine Degradation....Pages 141-153 Disorders of Histidine Metabolism....Pages 155-164 Disorders of Leucine Metabolism....Pages 165-189 Disorders of Valine-Isoleucine Metabolism....Pages 191-213 Various Organic Acidurias....Pages 215-232 Disorders of the γ-Glutamyl Cycle....Pages 233-242 Disorders of Sulfur Amino Acids....Pages 243-260 Inherited Hyperammonemias....Pages 261-276 Disorders of Ornithine, Lysine and Tryptophan....Pages 277-299 Defective Transcellular Transport of Amino Acids....Pages 301-308 Disorders of Mitochondrial Fatty Acid Oxidation and Ketone Body Handling....Pages 309-334 Front Matter....Pages 87-87 Disorders of Carbohydrate and Glycogen Metabolism....Pages 335-355 Disorders of Glucose Transport....Pages 357-367 Disorders of Glycerol Metabolism....Pages 369-376 The Mucopolysaccharidoses....Pages 377-398 Oligosaccharidoses and Related Disorders....Pages 399-410 Congenital Disorders of Glycosylation....Pages 411-422 Cystinosis....Pages 423-430 Other Storage Disorders....Pages 431-443 Purine and Pyrimidine Disorders....Pages 445-466 Disorders of Creatine Metabolism....Pages 467-480 Peroxisomal Disorders....Pages 481-508 Hyperoxaluria....Pages 509-518 Mitochondrial Energy Metabolism....Pages 519-536 Genetic Dyslipoproteinemias....Pages 537-549 Disorders of Steroid Synthesis and Metabolism....Pages 551-571 Inborn Errors of Cholesterol Biosynthesis....Pages 573-592 The Porphyrias....Pages 593-613 Disorders of Bile Acid Synthesis....Pages 615-630 Disorders of Copper, Zinc and Iron Metabolism....Pages 631-658 Leukotrienes....Pages 659-667 Front Matter....Pages 87-87 Other Metabolic Disorders....Pages 669-674 Back Matter....Pages 675-716 This second edition of The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. The guide, which includes a CD-ROM, describes 298 disorders which have been grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are three indices to make the book as user-friendly as possible.