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12.1 The inborn errors of metabolism: General aspects 1929 ESSENTIALS The inborn errors of metabolism are those inherited diseases in which the phenotype includes a characteristic constellation of bio- chemical abnormalities related to an alteration in the cat...

12.10 Hereditary disorders of oxalate metabolism: The primary hyperoxalurias 2174 ESSENTIALS Primary hyperoxalurias (PHs) are rare inherited disorders character- ized by an increased endogenous synthesis of oxalate caused by a deficiency in one of several live...

12.11 A physiological approach to acid– base disorders: The roles of ion transport and body fluid compartments 2182 ESSENTIALS The normal pH of human extracellular fluid is maintained within the range of 7.35 to 7.45. The four main types of acid–​base disorder...

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, hereditary periodic fever syndromes, and amyloidosis CONTENTS 12.12.1 The acute phase response and C-​reactive protein  2199 Mark B. Pepys 12.12.2 Hereditary period...

12.12.2 Hereditary periodic fever syndromes 2207 12.12.2  Hereditary periodic fever syndromes 2207 Liuzzo G, et al. (1994). The prognostic value of C-​reactive protein and serum amyloid A protein in severe unstable angina. N Engl J Med, 331, 417–​24. Lowe GDO,...

12.12.3 Amyloidosis 2218 section 12  Metabolic disorders 2218 Levy R, et  al. (2015). Phenotypic and genotypic characteristics of cryopyrin-​associated periodic syndrome:  a series of 136 patients from the Eurofever Registry. Ann Rheum Dis, 7411, 2043–​9. Liu ...

12.13 a1- Antitrypsin deficiency and the serpinopathies 2235 ESSENTIALS α1-​Antitrypsin is an acute phase glycoprotein synthesized by the liver that functions as an inhibitor of a range of proteolytic en- zymes, most importantly neutrophil elastase in the lung...

12.2 Protein- dependent inborn errors of metabolism 1942 ESSENTIALS Protein-​dependent inborn errors of metabolism are caused by in- herited enzyme defects of catabolic pathways or intracellular trans- port of amino acids. Most result in an accumulation of met...

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 Glycogen storage diseases  1985 Robin H. Lachmann and Timothy M. Cox 12.3.2 Inborn errors of fructose metabolism  1993 Timothy M. Cox 12.3.3 Disorders of galactose, p...

12.3.2 Inborn errors of fructose metabolism 1993 Timothy M. Cox 12.3.2  Inborn errors of fructose metabolism 1993 may then confirm the diagnosis of a GSD. Electron microscopy can also be helpful if structurally abnormal glycogen is present. A diag- nostic fast...

12.3.3 Disorders of galactose, pentose, and pyruvate metabolism 2003 12.3.3  Disorders of galactose, pentose, and pyruvate metabolism 2003 Yang TY, et al. (2000). Hereditary fructose intolerance presenting as Reye’s-​like syndrome: report of one case. Acta Pae...

12.4 Disorders of purine and pyrimidine metabolism 2015 ESSENTIALS These disorders are due to abnormalities in the biosynthesis, inter- conversion, and degradation of the purines—​adenine and guanine—​ and of the pyrimidines—​cytosine, thymine, and uracil. All...

12.5 The porphyrias 2032 Timothy M. Cox ESSENTIALS The porphyrias are a remarkable family of metabolic disorders char- acterized biochemically by overproduction of haem precursors, principally in the liver and bone marrow. The acute porphyrias are inborn error...

12.6 Lipid disorders 2055 ESSENTIALS High blood cholesterol and high blood triglycerides are causal risk factors for atherosclerotic cardiovascular disease, which remains the leading cause of death in the developed world. Lipid and lipoprotein metabolism Chole...

12.7 Trace metal disorders 2098

12.7.1 Hereditary haemochromatosis 2098 William J.H. Griffiths and Timothy M. Cox CONTENTS 12.7.1 Hereditary haemochromatosis  2098 William J.H. Griffiths and Timothy M. Cox 12.7.2 Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease...