Inborn Metabolic Diseases : Diagnosis and Treatment

The editors of Inborn Metabolic Diseases: Diagnosis and Treat­ ment are joined by coauthors from a world-class cadre to pro­ duce a book about Mendelian disorders of metabolism. The emphasis is on practical matters: diagnosis of the clinical and chemical manifestations of this type of disease in both its gen­ eral and its particular forms, and treatment of the patient with the disease. The authors are concerned primarily with the con­ sequences (manifestations of the associated disease) of deranged metabolic homeostasis (pathogenesis) that originate in mutation(s) of major genes (causes of the diseases). This book ought to be the ideal companion to Metabolic Basis ()/Inherited Disease (6th edition, 1989) in which the molecular causes and pathogenesis of inborn errors of metabolism are emphasized. Both books reveal the attitudes and methods that characterize this branch of medicine and of medical genetics in particular: both also - whether they intended to or not - disclose a gap between theory and practice in the discipline. Front Matter....Pages I-XXI Front Matter....Pages 1-1 Clinical Approach to Inherited Metabolic Disorders....Pages 3-25 Front Matter....Pages 27-27 The Exercise Test....Pages 29-32 Substrate Detection....Pages 33-38 Selection of Tissue for the Enzyme Assay....Pages 39-43 Mass Spectrometry and Stable Isotopes....Pages 45-53 Magnetic Resonance Spectroscopy....Pages 55-65 Front Matter....Pages 67-67 The Glycogen Storage Diseases....Pages 69-88 Muscle Glycogenoses....Pages 89-94 Disorders of Galactose Metabolism....Pages 95-105 Disorders of Fructose Metabolism....Pages 107-112 Disorders of Gluconeogenesis....Pages 113-123 Front Matter....Pages 125-125 Disorders of Pyruvate Metabolism, the Citric Acid Cycle, and the Respiratory Chain....Pages 127-157 Front Matter....Pages 159-159 Phenylketonuria and Hyperphenylalaninemia....Pages 161-174 Maternal Phenylketonuria....Pages 175-182 Disorders of Tetrahydrobiopterin Metabolism....Pages 183-197 Tyrosinemia....Pages 199-209 Urea Cycle Disorders....Pages 211-228 Hyperornithinemias....Pages 229-239 Disorders of the Sulfur-Containing Amino Acids....Pages 241-252 Cystinosis....Pages 253-261 Front Matter....Pages 159-159 Disorders of Branched-Chain Amino Acid Metabolism....Pages 263-270 Organic Acidemias....Pages 271-299 Defects of Lysine Degradation....Pages 301-310 Biotin-Responsive Multiple Carboxylase Deficiency....Pages 311-320 Isolated Biotin-Resistant 3-Methylcrotonyl-CoA Carboxylase Deficiency....Pages 321-322 Nonketotic Hyperglycinemia....Pages 323-329 Disorders of the Gamma Glutamyl Cycle....Pages 331-336 Disorders of β -Alanine, 4-Aminobutyrate (GABA), Carnosine, and Homocarnosine....Pages 337-343 Front Matter....Pages 345-345 Hyperlipoproteinemias....Pages 347-380 Hypolipoproteinemia and Lipoprotein Lipase Deficiency....Pages 381-394 Disorders of Fatty Acid Oxidation....Pages 395-410 Ketolysis Defects....Pages 411-418 Front Matter....Pages 419-419 Peroxisomal Disorders....Pages 421-433 Front Matter....Pages 435-435 Adrenal Steroid Metabolism Disorders....Pages 437-451 Front Matter....Pages 453-453 Disorders of Purine and Pyrimidine Metabolism....Pages 455-474 Front Matter....Pages 475-475 The Porphyrias....Pages 477-489 Front Matter....Pages 491-491 Genetic Defects of the Metabolism of Magnesium, Zinc, Manganese, Molybdenum, and Selenium....Pages 493-505 Wilson’s Disease in Childhood....Pages 507-514 Menkes’ Disease....Pages 515-521 Front Matter....Pages 523-523 Heritable Disorders of Connective Tissues....Pages 525-561 Front Matter....Pages 563-563 Alpha-1-Antitrypsin Deficiency....Pages 565-568 Cystinuria....Pages 569-571 Hartnup Disease....Pages 573-576 Lysinuric Protein Intolerance....Pages 577-583 Inherited Forms of Renal Tubular Acidosis....Pages 585-595 Front Matter....Pages 597-597 Folate Disorders....Pages 599-606 Inborn Errors of Cobalamin (Vitamin B 12 ) Metabolism....Pages 607-621 Inherited Disorders of Vitamin D Metabolism and Action....Pages 623-632 Inborn Errors of Thiamine Metabolism....Pages 633-634 Front Matter....Pages 635-635 Disorders of Neurotransmitters....Pages 637-648 Front Matter....Pages 649-649 Liver Transplantation....Pages 651-658 Bone Marrow Transplantation in the Treatment of Lysosomal Storage Diseases....Pages 659-670 Prospects for Somatic Gene Therapy in the Management of Inborn Errors of Metabolism....Pages 671-680 Front Matter....Pages 681-681 Prenatal Diagnosis....Pages 683-695 Front Matter....Pages 697-697 Neuropsychiatric and Psychosocial Issues in the Care of the Child with an Inborn Error of Metabolism....Pages 699-718 Back Matter....Pages 719-730