Transport and Inherited Disease

Monograph based upon Proceedings of the Seventeenth Symposium of The Society for the Study of Inborn Errors of Metabolism

C. Toothill, N.R.R. Belton (Herausgeber)

Buch | Softcover

380 Seiten

2011 | Softcover reprint of the original 1st ed. 1981
Springer (Verlag)
978-94-009-7318-3 (ISBN)

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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).

Section One.- 1 The inherited methylmalonic acidaemias: a model system for the study of vitamin metabolism and apoenzyme-coenzyme Interactions — The Milner Lecture.- Section Two Biochemistry of Membranes.- 2 Membrane structure.- 3 Synthesis of membranes.- 4 Some regulatory principles in epithelial transport.- Section Three Transport in Brain.- 5 The needs of the brain for amino acids and how they are transported across the blood-brain barrier.- 6 Some aspects of the transport of glucose and ketone bodies into the brain and retina.- Section Four Renal Transport.- 7 The function and organization of kidney microvillar proteins.- 8 Cyclic nucleotides and the regulation of water and electrolyte transport.- 9 Mineralocorticoids and sodium transport.- 10 Sodium transport in cystic fibrosis.- 11 Nephrogenic diabetes insipidus.- 12 Mendelian hypophosphataemias as probes of phosphate and sulphate transport by mammalian kidney (X-linked hypophosphataemia. Autosomal hypophosphataemia in man and Hyp mutation in mouse).- 13 Renal transport of cystine by isolated renal tubules and brush-border membrane vesicles.- 14 5-Oxoprolinuria and other inborn errors related to the ?-glutamyl cycle.- Section Five Transport in Red Blood Cells.- 15 Anion transport in red blood cells.- 16 Inherited disorders of red-cell cation transport.- 17 Red-cell amino acid and nucleoside transport: inherited lesions and related enzyme deficiencies in sheep.

Zusatzinfo	380 p.
Verlagsort	Dordrecht
Sprache	englisch
Maße	155 x 235 mm
Themenwelt	Medizin / Pharmazie ► Gesundheitsfachberufe ► Diätassistenz / Ernährungsberatung
Themenwelt	Medizin / Pharmazie ► Medizinische Fachgebiete ► Pädiatrie
ISBN-10	94-009-7318-7 / 9400973187
ISBN-13	978-94-009-7318-3 / 9789400973183
Zustand	Neuware