Transport and Inherited Disease : Monograph Based Upon Proceedings of the Seventeenth Symposium of The Society for the Study of Inborn Errors of Metabolism

Many clinical problems of transport have been known for decades, par­ ticularly those disorders involving the liver and kidney. As a result of the dramatic increase in interest in transport at the membrane level the Society devoted its Seventeenth Symposium, held at Leeds during September 1979, to Transport and Inherited Disease, the result of that meeting forming the basis of this monograph. For the occasion over a hundred members and guests of the Society were joined by many invited speakers from Europe and the USA to discuss this rapidly developing field with special reference to the direct interests of the Society - in­ herited metabolic disease. The major theme of the meeting was opened with formal scientific presentations on membrane structure, synthesis and the regulation of epithelial transport. These were followed by discussions of specific prob­ lems of transport in brain, kidney and red blood cells. Almost all of these later lectures had clinical applications with cystic fibrosis and nephro­ genic diabetes insipidus featuring as examples of the common inherited diseases. The Hudson Memorial Lecture was delivered by Professor H. Bickel (Heidelberg). This outstanding review lecture on 'Phenylketonuri- past, present and future' is reproduced in the Journal of the Society - the Journal of Inherited Metabolic Disease (Volume 3 No.4, pp.123-132). xiii xiv PREFACE The members' papers (both oral and poster) are also being reprinted in various issues of the Journal (published by MTP Press Ltd., Lancaster, UK). Front Matter....Pages i-xiv Front Matter....Pages 1-1 The inherited methylmalonic acidaemias: a model system for the study of vitamin metabolism and apoenzyme-coenzyme interactions....Pages 3-32 Front Matter....Pages 33-33 Membrane structure....Pages 35-58 Synthesis of membranes....Pages 59-70 Some regulatory principles in epithelial transport....Pages 71-84 Front Matter....Pages 85-85 The needs of the brain for amino acids and how they are transported across the blood-brain barrier....Pages 87-122 Some aspects of the transport of glucose and ketone bodies into the brain and retina....Pages 123-146 Front Matter....Pages 147-147 The function and organization of kidney microvillar proteins....Pages 149-162 Cyclic nucleotides and the regulation of water and electrolyte transport....Pages 163-185 Mineralocorticoids and sodium transport....Pages 187-197 Sodium transport in cystic fibrosis....Pages 199-205 Nephrogenic diabetes insipidus....Pages 207-230 Mendelian hypophosphataemias as probes of phosphate and sulphate transport by mammalian kidney....Pages 231-262 Renal transport of cystine by isolated renal tubules and brush-border membrane vesicles....Pages 263-275 5-Oxoprolinuria and other inborn errors related to the γ-glutamyl cycle....Pages 277-306 Front Matter....Pages 307-307 Anion transport in red blood cells....Pages 309-331 Inherited disorders of red-cell cation transport....Pages 333-346 Red-cell amino acid and nucleoside transport: inherited lesions and related enzyme deficiencies in sheep....Pages 347-368 Back Matter....Pages 369-380 Many clinical problems of transport have been known for decades, par ticularly those disorders involving the liver and kidney. As a result of the dramatic increase in interest in transport at the membrane level the Society devoted its Seventeenth Symposium, held at Leeds during September 1979, to Transport and Inherited Disease, the result of that meeting forming the basis of this monograph. For the occasion over a hundred members and guests of the Society were joined by many invited speakers from Europe and the USA to discuss this rapidly developing field with special reference to the direct interests of the Society - in herited metabolic disease. The major theme of the meeting was opened with formal scientific presentations on membrane structure, synthesis and the regulation of epithelial transport. These were followed by discussions of specific prob lems of transport in brain, kidney and red blood cells. Almost all of these later lectures had clinical applications with cystic fibrosis and nephro genic diabetes insipidus featuring as examples of the common inherited diseases. The Hudson Memorial Lecture was delivered by Professor H. Bickel (Heidelberg). This outstanding review lecture on 'Phenylketonuri- past, present and future' is reproduced in the Journal of the Society - the Journal of Inherited Metabolic Disease (Volume 3 No. 4, pp. 123-132). xiii xiv PREFACE The members' papers (both oral and poster) are also being reprinted in various issues of the Journal (published by MTP Press Ltd., Lancaster, UK)