This manual describes laboratory methodology for diagnosing inborn errors of metabolism. Each chapter is sufficiently detailed so as to be self-contained, thus enabling any individual to adopt the method in their own laboratory and obviating the need for additional methods of references. The book is unique in that it is the first of its kind to be published in the last 15 years, and individual chapters have been developed by experts in the field citing both established and 'cutting-edge' technology.
Thus, it is sufficiently up-to-date to be applicable to the field of inborn errors of metabolism for all readers and those interested in laboratory diagnosis.
Laboratory Strategies in Biochemical Genetics.- QC and QA in the Biochemical Genetic Laboratory.- Simple Metabolic Screening Tests.- Lactate, Pyruvate, Acetoacetate, and 3-Hydroxybutyrate.- Amino Acids.- Homocysteine, S-adenosylmethionine and S-adenosylhomocysteine.- GABA, Homocarnosine, and b-Alanine.- Pipecolic Acid.- Organic Acids.- Acylcarnitines, Incl. in Vitro Loading Tests.- Plasmologens and Polyunsaturated Fatty Acids.- Very-Long-Chain Fatty Acids and Phytanic Acid.- Oxalate, Glycolate, Glycerate, Sulfate, and Citrate.- Glycerol and Glycerol Phosphates.- Biotinidase.- Mitochondrial Respiratory Chain.- Mucopolysaccharides.- Oligosaccharides.- Sialic Acid.- Glycosphingolipids.- Congential Disorders of Glycosylation.- Enzymes and Metabolites of Carbohydrate Metabolism.- Polyols.-Diagnosis of Inherited Defects of Cholesterol Biosynthesis.- Lipoproteins.- Genetic Disorders of Steroid Metabolism Diagnosed by Mass Spectrometry.- Bile Acids.-Pterins and Related Enzymes.- Biogenic Amines.- Folates.- Screening of Disorders of Purine and Pyrimidine Metabolism Using HPLC-Electrospray Tandem Mass Spectrometry.- Creatine and Metabolites.- Porphyrins,Porphobilinogen, and d-Aminolevuline Acid.- Trimethylaminuria.- A Tandem Mass Spectrometry Primer for Metabolite Disease Detection.- Molecular Genetics: Mutation Analysis in the Diagnosis of Metabolic Disorders.- Index.