Inborn Metabolic Diseases: Diagnosis and Treatment

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