INHERITED METABOLIC DISEASE IN ADULTS. A CLINICAL GUIDE

• PART A Metabolic pathways and their disorders in adults
Section 1 Disorders of carbohydrate metabolism
1. Glycogen Storage Disorders
2. Galactosemia
3. Disorders of fructose metabolism
4. Hyperinsulinemic hypoglycemia
5. Glut1 Deficiency
Section 2 Disorders of mitochondrial energry metabolism
6. Pyruvate dehydrogenase complex deficiency
7. Disorders of mitochondrial energy metabolism
8. Fatty acid oxidation, electron transfer and riboflavin transport defects
9. Disorders of ketogenesis and ketolysis
10. Disorders of creatine metabolism
11. Coenzyme Q10 deficiency
Section 3 Disorders of protein metabolism
12. Phenylketonuria and Hyperphenylalaninaemia
13. Tyrosinaemia type I
14. Tyrosinaemia type II
15. Alkaptonuria
16. Branched Chain Amino Acids
17. Urea Cycle Disorders
18. Citrin Deficiency
19. Cystathionine beta-synthase deficiency or classical homocystinuria
20. HHH syndrome
21. Glutaric aciduria type I
22. 2-hydroxyglutaric acidurias
23. Serine Deficiency
24. Cystinuria
25. Lysinuric Protein Intolerance & Hartnup Disease
Section 4 Vitamin metabolism disorders
26. Biotinidase deficiency and HCS
27. Disorders Of Cobalamin And Folate Metabolism
28. Disorders of thiamine metabolism
Section 5 Neurotransmitters
29. Succinic Semialdehyde Dehydrogenase Deficiency
30. Atypical Nonketotic Hyperglycinemia
31. Biogenic monoamine disorders
32. Brain Serotonin Deficiency
Section 6 Dyslipidemias
33. Monogenic Chylomicronemia: Deficiency Of Lipoprotein Lipase And Related Factors
34. Familial Lecithin Cholesterol Acyl Transferase Deficiency Syndromes
35. Tangier Disease
36. Familial Apolipoprotein A-I Deficiency
37. Abetalipoproteinemia And Hypobetalipoproteinemia
Section 7 Cholesterol synthesis disorders
38. Smith-Lemli-Opitz Syndrome
39. Mevalonate kinase deficiency
Section 8 Bile acid synthesis defects
40. Cerebrotendinous Xanthomatosis
41. Spastic paraplegia type 5
Section 9 Disorders of purine and pyrimidine
42. Disorders of Purine Metabolism Affecting Adults
Section 10 Porphyrias
43. Porphyrias
Section 11 Mineral and Metal metabolism disorders
44. Disorders of iron and Copper metabolism
45. Manganese
Section 12 Lysosomal storage diseases
46. Lysosomal storage disorders: biochemical background, classification and laboratory diagnosis
47. Gaucher Disease
48. Niemann-Pick disease type B
49. Fabry disease
50. Gangliosidoses (GM1 and GM2)
51. Krabbe disease in adults
52. Metachromatic Leukodystrophy
53. Niemann-Pick disease type C
54. Mucopolysaccharidosis (MPS) in Adults
55. Pompe Disease
56. Danon Disease
57. Oligosaccharidoses
58. Cholesteryl Ester Storage Disease
59. Ceroid lipofuscinoses
60. Nephropathic cystinosis in adults
Section 13 Peroxisomal disorders
61. AMN/ ALD
62. Peroxisome Biogenesis Disorders, ACYL-CoA Oxidase 1 Deficiency, D-Bifunctional Protein Deficiency
Section 14 CDGs
63. Congenital disorders of glycosylation
Section 15 Miscellaneous
64. Trimethylaminuria
65. Primary Hyperoxaluria
66. Disorders of complex lipids synthesis and remodeling
• PART B Approach to Patient
Section 1 Clinical Presentations
67. Neurological and Psychiatric symptoms
68. Chronic Fatigue and Acute Rhabdomyolysis
69. Brain MRI In Inherited Metabolic Diseases Of Adulthood
70. Cardiac Aspects of IMDs
71. Approach To The Patient With Respiratory Signs And Symptoms
72. Skeletal Abnormalities
73. Approach to the patient with general symptoms: fatigue and fever
74. Approach To The Patient With Hepato-Gastroenterological Or Abdominal Signs And Symptoms
75. Ophthalmic manifestations of Inherited Metabolic Disease
76. Emergencies
77. Haematological Abnormalities
Section 2 Biochemical presentations
78. Hyperammonemia
79. Approach To The Patient With Hyperhomocysteinaemia
80. Hypoglycemia
81. Metabolic Acidosis
82. Abnormalities of CSF neurotransmitters/ folates
Part C Interpretation of some common specialist metabolic tests
83. Amino Acids
84. Interpretation Of Organic Acid Analysis Results
85. Interpretation Of Acylcarnitine Analysis Results
86. Interpretation Of Very Long-Chain Fatty Acids Analysis Results
Part D Practical guidelines for the most prevalent disorders

As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever.

Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.

Oxford Monographs on Medical Genetics
• Offers clear classification and biochemical description of all inborn metabolic disorders (IMDs), pediatric and adult
• A systematic approach to each condition makes for easy clinical utility and navigability
• Chapters on the metabolic approach to various clinical and biochemical presentations aid in differential diagnosis
• Covers both acute presentations and long-term complications
• Offers tips for interpreting a number of specialist biochemical tests (e.g., how do plasma amino acid or acyl carnitine profiles help in patient diagnosis and management?)
• Brief, easily accessible management guidelines for the most common conditions of this type, formatted for quick reference and maximum clinical efficiency

Authors
• Carla E. M. Hollak is Professor of Internal Medicine in the Division of Endocrinology and Metabolism at the University of Amsterdam and the Academic Medical Center (AMC). She heads the adult inherited metabolic unit at AMC, including the centers of excellence for Gaucher and Fabry disease and a rapidly growing service for adults with inborn errors of metabolism. Hollak regularly serves as expert for regulatory agencies both at a national and international level. She is chair of the "Erfocentrum" board, treasurer of the European Study Group on Lysosomal Diseases, and involved in activities of the European Working Group on Gaucher Disease and the Adult Metabolic Group for the Society for the Study of Inborn Errors of Metabolism.
• Robin Lachmann is Consultant in Metabolic Medicine at the National Hospital for Neurology and Neurosurgery, London, where he heads the Charles Dent Metabolic Unit. He is a member of the British Inherited Metabolic Disease Group and the Society for the Study of Inborn Errors of Metabolism, serving as chair of the latter's adult group. He is Chair of the Scientific Committee of the Recordati Rare Diseases Foundation, organizing training and education in rare diseases; Chair of the Metabolic Disorders Clinical Reference Group, which advises NHS England on metabolic services; and an elected member of Council of the Royal College of Physicians, London.