SECTION 12 Metabolic disorders

12.1 The inborn errors of metabolism: General aspects 1929 ESSENTIALS The inborn errors of metabo...

12.10 Hereditary disorders of oxalate metabolism: The primary hyperoxalurias 2174 ESSENTIALS Prim...

12.11 A physiological approach to acid– base disorders: The roles of ion transport and body fluid...

12.12 The acute phase response, hereditary periodic fever syndromes, and amyloidosis 2199

12.12.1 The acute phase response and C- reactive protein 2199 12.12 The acute phase response, her...

12.12.2 Hereditary periodic fever syndromes 2207 12.12.2  Hereditary periodic fever syndromes 220...

12.12.3 Amyloidosis 2218 section 12  Metabolic disorders 2218 Levy R, et  al. (2015). Phenotypic ...

12.13 a1- Antitrypsin deficiency and the serpinopathies 2235 ESSENTIALS α1-​Antitrypsin is an acu...

12.2 Protein- dependent inborn errors of metabolism 1942 ESSENTIALS Protein-​dependent inborn err...

12.3 Disorders of carbohydrate metabolism 1985

12.3.1 Glycogen storage diseases 1985 Robin H. Lachmann and Timothy M. Cox CONTENTS 12.3.1 Glyco...

12.3.2 Inborn errors of fructose metabolism 1993 Timothy M. Cox 12.3.2  Inborn errors of fructose...

12.3.3 Disorders of galactose, pentose, and pyruvate metabolism 2003 12.3.3  Disorders of galacto...

12.4 Disorders of purine and pyrimidine metabolism 2015 ESSENTIALS These disorders are due to abn...

12.5 The porphyrias 2032 Timothy M. Cox ESSENTIALS The porphyrias are a remarkable family of meta...

12.6 Lipid disorders 2055 ESSENTIALS High blood cholesterol and high blood triglycerides are caus...

12.7 Trace metal disorders 2098

12.7.1 Hereditary haemochromatosis 2098 William J.H. Griffiths and Timothy M. Cox CONTENTS 12.7.1...

12.7.2 Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease 2115 12.7.2 ...

12.8 Lysosomal disease 2121 ESSENTIALS Lysosomal function and classification of diseases The lyso...

12.9 Disorders of peroxisomal metabolism in adults 2157 ESSENTIALS The peroxisome is a specialize...