Being up to Date: Status Quo and Trends of Treatment
For those involved in the identification and management of patients with inborn errors of metabolism, this book is now recognised as the standard textbook in this interdisciplinary field. It has proved to be indispensable for professionals in specialities ranging from pediatrics, neonatology, pathological biochemistry and genetics to neurology, internal medicine, nursing, dietetics and psychology. This 5th edition has been extensively revised and updated.
What s new
- Additional chapter focusing on inborn errors affecting adults, particularly the late neurological presentations
- Numerous updates on diagnostic procedures and treatment
- Newly discovered disorders.
As with previous editions, the book opens with a section presenting the clinical approach to inborn metabolic diseases for those cases in which a diagnosis is being sought. This now includes a chapter on the clinical presentation of metabolic diseases in the older age range, using an analogous structure. If a particular diagnosis is already suspected, the reader may refer to the following sections of the book containing general chapters on diagnostic procedures and treatment, and on specific groups of disorders. As with earlier editions, the chapters have been written by authors who are internationally recognised experts on their subjects. They provide information in a clear, relevant and concise manner using a coherent structure.

Part I: Diagnosis and Treatment: General Principles: Classification and clinical Approach to Inherited Metabolic Diseases in Pediatrics

Clinical approach to Inherited Metabolic Diseases in Adulthood
Newborn Screening for Inborn Errors of Metabolism
Diagnostic Procedures and Postmortem Protocol
Emergency Treatments
Part II: Disorders of Carbohydrate Metabolism: Glycogen-Storage Diseases and Related Disorders
Disorders of Galactose Metabolism
Disorders of the Pentose Phosphate Pathway
Disorders of Fructose Metabolism
Persistent Hyperinsulinemic Hypoglycemia
Disorders of Glucose Transport
Part III: Disorders of Mitochondrial Energy Metabolism: Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle
Disorders of Mitochondrial Fatty Acid Oxidation and Related Metabolic Pathways
Disorders of Ketogenesis and Ketolysis
Defects of the Respiratory Chain
Creatine Deficiency Syndromes
Part IV: Disorders of Amino Acid Metabolism and Transport: Hyperphenylalaninaemias
Disorders of Tyrosine Metabolism
Branched-Chain Organic Acidurias/Acidemias
Disorders of the Urea Cycle and Related Enzymes
Disorders of Sulfur Amino Acid Metabolism
Disorders of Ornithine Metabolism
Cerebral Organic Acid Disorders and other Disorders of Lysine Catabolism
Nonketotic Hyperglycinemia (Glycine Encephalopathy)
Disorders of Proline and Serine Metabolism
Transport Defects of Amino Acids at the Cell Membrane
Part V : Vitamin-Responsive Disorders: Biotin-Responsive Multiple Carboxylase Deficiency
Disorders of Cobalamin and Folate Transport and Metabolism
Part VI: Neurotransmitter and Small Peptide Disorders: Disorders of Neurotransmission
Disorders in the Metabolism of Glutathione and Imidazole Dipeptides
Trimethylaminuria and Dimethylglycine Dehydrogenase Deficiency
Part VII: Disorders of Lipid and Bile Acid Metabolism: Dyslipidemias
Disorders of Cholesterol Synthesis
Disorders of Bile Acid Synthesis
Part VIII: Disorders of Nucleic Acid and Heme Metabolism: Disorders of Purine and Pyrimidine Metabolism
Disorders of Heme Biosynthesis
Part IX: Disorders of Metal Transport: Disorders in the Transport of Copper, Zinc and Magnesium
Part X: Organelle-Related Disorders: Lysosomes, Peroxysomes, and Golgi and Pre-Golgi Systems: Disorders of Sphingolipid Metabolism and Ceroid lipofuscinosis
Pompe Disease, Mucopolysaccharidoses, and Oligosacharidoses
Peroxisomal Disorders
Congenital Disorders of Glycosylation
Cystinosis.