Laboratory Guide to the Methods in Biochemical Genetics (eBook)

Foreword 5
Preface 7
Contents 9
List of Contributors 12
Abbreviations 17
1.1 Laboratory Strategies in Biochemical Genetics 25
1.2 Quality Control and Quality Assurance in the Biochemical Genetic Laboratory 31
1.3 Simple Metabolic Screening Tests 47
1.4 Lactate, Pyruvate, Acetoacetate and 3-Hydroxybutyrate 58
2.1 Amino Acids 75
2.2 Homocysteine, S-adenosylmethionine and S-adenosylhomocysteine 112
2.3 GABA, Homocarnosine, and ß-Alanine 136
2.4 Pipecolic Acid 150
3.1 Organic Acids 157
3.2 Acylcarnitines, Including In Vitro Loading Tests 190
3.3 Plasmalogens and Polyunsaturated Fatty Acids 226
3.4 Very-Long-Chain Fatty Acids and Phytanic Acid 240
3.5 Oxalate, Glycolate, Glycerate, Sulfate, and Citrate 251
3.6 Glycerol and Glycerol Phosphates 262
3.7 Biotinidase 269
3.8 Mitochondrial Respiratory Chain 281
4.1 Mucopolysaccharides 303
4.2 Oligosaccharides 341
4.3 Sialic Acid 350
4.4 Glycosphingolipids 365
4.5 Congenital Disorders of Glycosylation 393
4.6 Enzymes and Metabolites of Carbohydrate Metabolism 431
4.7 Polyols 486
5.1 Diagnosis of Inherited Defects of Cholesterol Biosynthesis 496
5.2 Lipoproteins 509
5.3 Genetic Disorders of Steroid Metabolism Diagnosed by Mass Spectrometry 561
5.4 Bile Acids 618
6.1 Pterins and Related Enzymes 676
6.2 Biogenic Amines 713
6.3 Folates 726
7.1 Screening for Disorders of Purine and Pyrimidine Metabolism Using HPLC-Electrospray Tandem Mass Spectrometry 734
7.2 Creatine and its Metabolites 747
7.3 Porphyrins, Porphobilinogen,and d-Aminolevulinic Acid 758
7.4 Trimethylaminuria 788
8.1 A Tandem Mass Spectrometry Primer for Metabolite Disease Detection 800
8.2 Molecular Genetics: Mutation Analysis in the Diagnosis of Metabolic Disorders 811
Subject Index 836