This updated and enlarged second edition 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 clinicians and laboratory personnel alike - reference laboratory data is scattered, and clinical descriptions can be obscure. The new Physician's Guide with the additional more than 600 diseases now featured, documents 1200 conditions grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). It includes relevant clinical findings and highlights the pathological values for diagnostic metabolites. Guidance on appropriate biochemical genetic testing is also provided and established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring.

The authors are acknowledged experts, and the book is a valuable desk reference for all who deal with inherited metabolic diseases.

Chapter 73 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com

Part 1. GENERAL SUBJECTS AND PROFILES

1. Newborn Screening for Inborn Errors of Metabolism
2. Simple Tests and Routine Chemistry
3. Amino Acids
4. Organic Acids
5 .Acylcarnitines
6. Lysosomals
7. Untargeted Metabolomics - Next Generation Metabolic Screening
8. MRI and In Vivo Spectroscopy of the Brain
9. Genomic Approaches for the Diagnosis of Inborn Errors of Metabolism
10. Other-omics Approaches and Their Integration for the Diagnosis and Treatment of Inborn Errors of Metabolism
11. Emergency Diagnostic Procedures and Emergency Treatment
12. Nosology of Inborn Errors of Metabolism
Part 2. DISORDERS OF NITROGEN-CONTAINING COMPOUNDS
13. Purine and Pyrimidine Disorders
14. Disorders of nucleotide metabolism
15. Disorders of Creatine Metabolism
16. Disorder of Glutathione Metabolism
17. Disorders of Ammonia Detoxification
18. Amino Acid Transport Defects
19. Disorders of Monoamine Metabolism
20. Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism
21. Disorders of Tyrosine Metabolism
22. Disorders of Sulfur Amino Acid and Hydrogen Sulfide Metabolism
23. Disorders of Branched-Chain Amino Acid Metabolism
24. Disorders of Beta and Gamma Amino Acids
25. Amino Acid Synthesis Deficiencies
26. Disorders of Glycine Metabolism
27. Disorders of Lipoic Acid and Iron-Sulfur Protein Metabolism
Part 3. DISORDERS OF VITAMINS, COFACTORS, METALS AND MINERALS
28. Disorders of Cobalamin Metabolism
29. Disorders of Folate Metabolism and Transport
30. Disorders of Biotin Metabolism
31. Thiamine Disorders
32. Disorders of Riboflavin Metabolism
33. Disorders of Niacin, NAD and Panthotenate Metabolism
34. Vitamin B6-Dependent and Responsive Disorders
35. Molybdenum Cofactor Disorders
36. Disorders of Copper, Zinc and Selenium Metabolism
37. Disorders of Iron Metabolism
38. Disorders of Manganese Metabolism
Part 4. DISORDERS OF CARBOHYDRATES
39. Disorders of Carbohydrate Absorption, Transmembrane Transport and Metabolism
40. Disorders of the Pentose Phosphate Pathway and Polyol Metabolism.-  41. Hyperinsulinism
Part 5. MITOCHONDRIAL DISORDERS OF ENERGY METABOLISM
42. Disorders of the Pyruvate Metabolism and the Krebs Cycle
43. Disorders of Mitochondrial Carriers
44. Isolated Mitochondrial Complex Deficiencies
45. Disorders of Replication, Transcription and Translation of Mitochondrial DNA
46. Disorders of mitochondrial homeostasis, dynamics, protein import and quality control
47. Primary Coenzyme Q10 Deficiencies
Part 6. DISORDERS OF LIPIDS
48. Mitochondrial Fatty Acid Oxidation Disorders
49. Disorders of Glycerol Metabolism
50. Disorders of Ketone Body Metabolism and Transport
51. Disorders of Complex Lipids
52. Disorders of Eicosanoid Metabolism
53. Disorders of Lipoprotein Metabolism
54. Disorders of Cholesterol Biosynthesis
55. Disorders of Adrenals and Gonads
56. Disorders of Bile Acid Synthesis. Part 7. DISORDERS OF TETRAPYRROLES.-57. Disorders of Heme Metabolism
58. Inherited Disorders of Bilirubin Metabolism
Part 8. STORAGE DISORDERS
59. Disorders of Autophagy
60. Lipidoses: The Sphingolipidoses, Lysosomal Acid Lipase Deficiency and Niemann Pick type C
61. The Neuronal Ceroid Lipofuscinoses.-62. Mucolipidoses, Multiple Sulfatase deficiency, Cathepsin K and C Deficiency
63. Oligosaccharidoses and Sialic Acid Disorders
64. The Mucopolysaccharidoses
65. Cystinosis
Part 9. DISORDERS OF PEROXISOMES AND OXALATE
66. Peroxisomal Disorders
67. Disorders for Oxalate Metabolism
Part 10. CONGENITAL DISORDERS OF GLYCOSYLATION
68. Congenital Disorders of Glycosylation
Part 11. VARIOUS
69. Cerebral Organic Acidurias
70. 3-Methylglutaconic acidurias
71. Biochemical Phenotypes of Questionable Clinical Significance
72. Knowledgebase of Inborn Errors of Metabolism (IEMbase): A Practical Approach
73. WikiPathways: Integrating Pathway Knowledge with Clinical Data.