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

1. Front Matter

   Pages I-XVIII

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2. Initial Approaches

   1. Emergency Management of Metabolic Diseases

      • Georg F. Hoffmann, Joe T.R. Clarke, James V. Leonard

      Pages 3-13

   2. The Role of Communication in the Treatment of Inborn Metabolic Diseases

      • Peter Burgard, Udo Wendel

      Pages 15-21

3. Approach to Treatment

   1. Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism

      • Nenad Blau, Peter Burgard

      Pages 25-34

   2. Disorders of Neurotransmission

      • Georg F. Hoffmann, Robert Surtees

      Pages 35-42

   3. Disorders of GABA, Glycine, Serine, and Proline

      • Jaak Jaeken, Tom J. de Koning

      Pages 43-48

   4. Disorders of Tyrosine Degradation

      • Elisabeth Holme

      Pages 49-55

   5. Disorders of Histidine Metabolism

      • Nenad Blau

      Pages 57-58

   6. Disorders of Leucine Metabolism

      • Rebecca S. Wappner, K. Michael Gibson

      Pages 59-79

   7. Disorders of Valine-Isoleucine Metabolism

      • Bruce A. Barshop

      Pages 81-92

   8. Various Organic Acidurias

      • Alberto Burlina, John Walter

      Pages 93-97

   9. Disorders of the γ-Glutamyl Cycle

      • Ellinor Ristoff, Agne Larsson

      Pages 99-103

   10. Disorders of Sulfur Amino Acid Metabolism

       • Bridget Wilcken

       Pages 105-115

   11. Inherited Hyperammonaemias

       • James V. Leonard

       Pages 117-127

   12. Disorders of Ornithine, Lysine, and Tryptophan

       • Georg F. Hoffmann, Andreas Schulze

       Pages 129-138

   13. Defective Transcellular Transport of Amino Acids

       • Susanne Schweitzer-Krantz

       Pages 139-145

   14. Disorders of Mitochondrial Fatty Acid Oxidation and Ketone Body Metabolism

       • Hélène Ogier de Baulny, Andrea Superti-Furga

       Pages 147-160

   15. Disorders of Carbohydrate and Glycogen Metabolism

       • Jan Peter Rake, Gepke Visser, G. Peter A. Smit

       Pages 161-180

   16. Disorders of Glucose Transport

       • René Santer, Jörg Klepper

       Pages 181-187

   17. Disorders of Glycerol Metabolism

       • Katrina M. Dipple, Edward R.B. McCabe

       Pages 189-193

The greatest dif?culty in life is to make knowledge effective, to convert it into practical wisdom. Sir William Osler. The inborn errors of metabolism, as a group of metabolic diseases, are re- tively rare and are sometimes called “orphan diseases. ” As a group, they account for about 1 in 2,500 births (Applegarth et al. 2000) and, as a cumulative group reaching 20 years of age, their prevalence is about 40 cases per 100,000 popu- tion. In terms of patient days of continuous supervision and care, hundreds of thousands of such days are involved per generation of these patients. Although experience with these diseases as a class may be small and people expert in their management may be relatively few, in the years to come many caregivers will become involved. This book offers help to them. Until the mid-twentieth century, hereditary metabolic and other genetic diseases were considered to be purely “genetic” problems. Destiny would take its course, treatment did not exist, and genetic counseling about recurrence risks was virtually all that could be offered. Phenylketonuria (PKU) was then shown to be a treatable genetic disease in which early diagnosis and effective treatment prevented the disease (mental retardation) in PKU. Other genetic diseases for which an environmental experience was an essential component of cause (e. g. , exposure to a dietary component or a drug) were then seen to yield to treatment.

• Insulin
• Internist
• biosynthesis
• carbohydrate
• genetics
• lipoprotein
• management
• metabolic disease
• metabolic disorder
• metabolism
• mitochondria
• protein
• steroid
• therapy
• treatment

From the reviews:

"The Physician’s Guide to the Treatment and Follow-up of Metabolic Diseases caters to the ever-growing community of doctors seeing patients with these rare disorders. It compiles concise information on … a variety of rare inherited disorders, meticulously listing possible medication and dosages. … Each chapter is written by well-known experts in the field … . an ideal reference guide for the beginner and the expert in the field alike." (Dr. Zoltan Lukacs, Journal of Inherited Metabolic Disease, Vol. 29, 2006)

• Division of Clinical Chemistry and Biochemistry, University Children’s Hospital, Zurich, Switzerland

  Nenad Blau

• Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, London, UK

  James Leonard

• Universitätsklinik für Kinder- und Jugendmedizin, Heidelberg, Germany

  Georg F. Hoffmann

• Division of Clinical & Metabolic Genetics, Hospital for Sick Children, Toronto, Canada

  Joe T. R. Clarke

Policies and ethics