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.

A one step resource Provides nomenclature for each disorder Includes tables of signs and symptoms Reference and pathological values for all parameters relevant to the diagnosis Preconditions, material, handling, and pitfalls Provides prenatal diagnosis and outline for urgent treatment before a diagnosis is established Includes supplementary material: sn.pub/extras

Inhalt
One: Approach to Diagnosis.- A Simple Tests in Urine and Blood.- B Amino Acid Analysis.- C Organic Acid Analysis.- D Miscellaneous Analyses.- E Tandem Mass Spectrometry in Clinical Diagnosis.- F Proton NMR Spectroscopy of Body Fluids.- Two: Disorders.- 1 Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism.- 2 Disorders of Neurotransmitter Metabolism.- Disorders of GABA, Glycine, Serine and Proline.- 4 Disorders of Tyrosine Degradation.- 5 Disorders of Histidine Metabolism.- 6 Disorders of Leucine Metabolism.- 7 Disorders of Valine-Isoleucine Metabolism.- 8 Various Organic Acidurias.- 9 Disorders of the & ?-Glutamyl Cycle.- 10 Disorders of Sulfur Amino Acids.- 11 Inherited Hyperammonemias.- 12 Disorders of Ornithine, Lysine and Tryptophan.- 13 Defective Transcellular Transport of Amino Acids.- 14 Disorders of Mitochondrial Fatty Acid Oxidation and Ketone Body Handling.- 15 Disorders of Carbohydrate and Glycogen Metabolism.- 16 Disorders of Glucose Transport.- 17 Disordersof Glycerol Metabolism.- 18 The Mucopolysaccharidoses.- 19 Oligosaccharidoses and Related Disorders.- 20 Congenital Disorders of Glycosylation.- 21 Cystin.- 22 Other Storage Disorders.- 23 Purine and Pyrimidine Disorders.- 24 Disorders of Creatine Metabolism.- 25 Peroxisomal Disorders.- 26 Hyperoxaluria.- 27 Mitochondrial Energy Metabolism.- 28 Genetic Dyslipoproteinemias.- 29 Disorders of Steroid Synthesis and Metabolism.- 30 Inborn Errors of Cholesterol Biosynthesis.- 31 The Porphyrias.- 32 Disorders of Bile Acid Synthesis.- 33 Disorders of Copper, Zinc and Iron Metabolism.- 34 Leukotrienes.- 35 Other Metabolic Disorders.- Three: Indices.- Disorders Index.- Signs and Symptoms Index.- Tests Index.