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Table of Contents:

Pt. 1 Approach to Diagnosis 1
A Simple Tests in Urine and Blood 3
B Amino Acid Analysis 11
C Organic Acid Analysis 27
D Miscellaneous Analyses 45
E Tandem Mass Spectrometry in Clinical Diagnosis 57
F Proton NMR Spectroscopy of Body Fluids 77
Pt. 2 Disorders 87
1 Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism 89
2 Disorders of Neurotransmitter Metabolism 107
3 Disorders of GABA, Glycine, Serine and Proline 123
4 Disorders of Tyrosine Degradation 141
5 Disorders of Histidine Metabolism 155
6 Disorders of Leucine Metabolism 165
7 Disorders of Valine-Isoleucine Metabolism 191
8 Various Organic Acidurias 215
9 Disorders of the [gamma]-Glutamyl Cycle 233
10 Disorders of Sulfur Amino Acids 243
11 Inherited Hyperammonemias 261
12 Disorders of Ornithine, Lysine and Tryptophan 277
13 Defective Transcellular Transport of Amino Acids 301
14 Disorders of Mitochondrial Fatty Acid Oxidation and Ketone Body Handling 309
15 Disorders of Carbohydrate and Glycogen Metabolism 335
16 Disorders of Glucose Transport 357
17 Disorders of Glycerol Metabolism 369
18 The Mucopolysaccharidoses 377
19 Oligosaccharidoses and Related Disorders 399
20 Congenital Disorders of Glycosylation 411
21 Cystinosis 423
22 Other Storage Disorders 431
23 Purine and Pyrimidine Disorders 445
24 Disorders of Creatine Metabolism 467
25 Peroxisomal Disorders 481
26 Hyperoxaluria 509
27 Mitochondrial Energy Metabolism 519
28 Genetic Dyslipoproteinemias 537
29 Disorders of Steroid Synthesis and Metabolism 551
30 Inborn Errors of Cholesterol Biosynthesis 573
31 The Porphyrias 593
32 Disorders of Bile Acid Synthesis 615
33 Disorders of Copper, Zinc and Iron Metabolism 631
34 Leukotrienes 659
35 Other Metabolic Disorders 669
Disorders Index 677
Signs and Symptoms Index 689
Tests Index 703