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

This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The __Physician’s Guide__ documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with 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 "This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of patients with inherited metabolic diseases The clinical and laboratory data characteristic of the ever-growing number of rare metabolic conditions can be bewildering for the general clinician Reference laboratory data are scattered and clinical descriptions maybe obscure The Physician’s Guide documents the features of more than five hundred conditions, grouped according to disorder category Relevant clinical findings are provided and pathological values for diagnostic metabolites are provided Signs and symptoms are provided for each disorder from birth through adulthood In addition, the role of biochemical genetic testing is outlined Treatment protocols and experimental therapies are fully described, with guidance on follow-up and monitoring The authors are acknowledged experts from across the world, and the book will be invaluable to all who deal with patients with inherited metabolic diseases, including pediatricians, internists, neurologists, and clinical geneticists, as well as clinical and biochemical geneticists - Font no determinada Introductory Chapters -- Amino Acids -- Organic Acids -- Vitamins And Neurotransmitter -- Energy Metabolism -- Organelles -- Selected Disorder -- Biochemical Phenotypes Of Questionable Clinical Significance -- Profiles. Nenad Blau, Marinus Duran, K. Michael Gibson, Carlo Dionisi-vici, Editors. Includes Bibliographical References And Indexes. Mode Of Access: World Wide Web.