Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

Front Matter....Pages i-xlv
Front Matter....Pages 1-1
Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism....Pages 3-21
Tyrosine Metabolism....Pages 23-31
Sulphur Amino Acids....Pages 33-46
Hyperammonemias and Related Disorders....Pages 47-62
Disorders of Glycine, Serine, GABA, and Proline Metabolism....Pages 63-83
Amino Acid Transport Defects....Pages 85-99
Front Matter....Pages 101-101
Disorders of Leucine, Isoleucine, and Valine Metabolism....Pages 103-141
Cerebral Organic Acidurias....Pages 143-156
Ethylmalonic Encephalopathy....Pages 157-163
Front Matter....Pages 165-165
Disorders of Folate Metabolism and Transport....Pages 167-178
Vitamin B 6 -Dependent and Responsive Disorders....Pages 179-190
Molybdenum Cofactor Disorders....Pages 191-203
Vitamin B 12 Disorders....Pages 205-218
Biotin Disorders....Pages 219-225
Thiamine Disorders....Pages 227-232
Riboflavin and CoQ Disorders....Pages 233-244
Front Matter....Pages 245-245
Mitochondrial Fatty Acid Oxidation Disorders....Pages 247-264
Disorders of Carbohydrate Metabolism and Glucose Transport....Pages 265-301
Pyruvate Carboxylase and Pyruvate Dehydrogenase Deficiency....Pages 303-311
Disorders of the Krebs Cycle....Pages 313-322
Front Matter....Pages 245-245
Hyperinsulinism....Pages 323-336
Mitochondrial Oxidative Phosphorylation Disorders....Pages 337-359
Disorders of Ketone Body Metabolism....Pages 361-371
Front Matter....Pages 373-373
Peroxisomal Disorders....Pages 375-397
Lysosomal Storage Disorders Including Neuronal Ceroid Lipofuscinoses....Pages 399-435
Oligosaccharidoses and Sialic Acid Disorders....Pages 437-448
The Mucopolysaccharidoses....Pages 449-464
Hyperoxalurias....Pages 465-474
Cystinosis....Pages 475-482
Congenital Disorders of Glycosylation....Pages 483-512
Front Matter....Pages 513-513
Neurotransmitter Disorders....Pages 515-528
Creatine Disorders....Pages 529-540
Heme Synthesis Defects and Porphyrias....Pages 541-554
Disorders of Bile Acid Synthesis and Biliary Transport....Pages 555-576
Disorders of Polyol Metabolism....Pages 577-583
Cholesterol Synthesis Disorders....Pages 585-600
Disorders of Adrenals and Gonads....Pages 601-616
Leukotrienes....Pages 617-622
Disorders of Copper and Zinc Metabolism....Pages 623-632
Iron Metabolism Disorders....Pages 633-640
Front Matter....Pages 513-513
Purine and Pyrimidine Disorders....Pages 641-660
Disorders of Glutathione and γ-Glutamyl Cycle....Pages 661-669
Disorders of Lipoprotein Metabolism....Pages 671-689
Biochemical Phenotypes of Questionable Clinical Significance....Pages 691-705
Front Matter....Pages 707-707
Emergency Diagnostic Procedures and Emergency Treatment....Pages 709-717
Newborn Screening for Inborn Errors of Metabolism....Pages 719-735
Genetic Counseling for Inborn Errors of Metabolism....Pages 737-742
Simple Tests....Pages 743-747
Amino Acids....Pages 749-759
Organic Acids....Pages 761-773
Acylcarnitines....Pages 775-784
Lysosomals....Pages 785-793
Proton NMR Spectroscopy of Body Fluids....Pages 795-801
MRI and In Vivo Spectroscopy of the Brain....Pages 803-815
SSIEM Classification of Inborn Errors of Metabolism....Pages 817-830
Back Matter....Pages 831-867