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.
                                          

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.