Studies in Inherited Metabolic Disease: Lipoproteins Ethical Issues PDF
Preview Studies in Inherited Metabolic Disease: Lipoproteins Ethical Issues
Studies in Inherited Metabolic Disease Lipoproteins; Ethical Issues Studies in Inherited Metabolic Disease Lipoproteins Ethical Issues Proceedings of the 25th Annual Symposium of the SSIEM, Sheffield, UK, September 1987 The combined supplements of Journal of Inherited Metabolic Disease Volume 11 (1988) edited by R. J. Pollitt, R. A. Harkness and G. M. Addison SPRINGER-SCIENCE+BUSINESS MEDIA, B.V. ISBN 978-94-010-7059-1 ISBN 978-94-009-1259-5 (eBook) DOI 10.1007/978-94-009-1259-5 Copyright © 1988 Springer Science+ Business Media Dordrecht Originally published by Kluwer Academic Publishers in 1988 Softcover reprint of the hardcover 1st edition 1988 All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, electronic, mechanical, photocopying, recording or otherwise, without prior permission from the publishers, Springer-Science+Business Media, B.V. Contents Author Index ix Title Index xi Preface - Inherited Metabolic Disease 25 years on 1 The biochemistry of lipoproteins A. M. Salter and D. N. Brindley 4 Clinical consequences of hyperlipidaemia G. R. Thompson 18 Lipase deficiencies H. Greten and F. U. Beil 29 The use of recombinant DNA techniques for the diagnosis of familial hypercholesterolaemia S. Humphries, R. Taylor, M. Jennah and M. Seed 33 Familial LCAT deficiency and fish eye disease N. Mcintyre 45 Biochemical, genetic and metabolic studies of hyperapobetalipoproteinaemia P. 0. Kwiterovich, Jr 57 Apolipoprotein polymorphism and multifactorial hyperlipidaemia G. Utermann 74 A neonatal screening approach to the detection of familial hypercholesterolaemia and family-based coronary prevention D. E. L. Wilcken, B. L. Blades and N. P. B. Dudman 87 The paediatric lipid clinic in Birmingham M. Tarlow, A. Green, D. Worthington and E. Buchanan 91 Recent advances in cystic fibrosis M.A. McPherson 94 Symposium: the ethics of antenatal diagnosis and the termination of pregnancy Introduction D. P. Brenton and J. W. Seakins 110 Antenatal diagnosis and the termination of pregnancy - what the churches have to say Rev. N. R. Holtam 111 Ethics and clinical practice R. Gillon 120 Discussion 125 Short Communications Preface to Short Communications 131 Free Communications 132 An erroneous apolipoprotein E-3 band in high density lipoprotein fractions A. V. Rawlings and T Deegan 135 Histochemical abnormalities in liver and jejunal biopsies from a case of cholesterol ester storage disease A. Lageron and J. Polonovski 139 Cholesteryl ester storage disease: risk factors for atherosclerosis in a 15-year-old boy R. Longhi, C. Vergani, R. Valsasina, E. Riva, C. Galluzzo, C. Agostoni and M. Giovan- nini 143 v VI Cholesteryl ester storage disease with secondary lecithin cholesterol acyl transferase de ficiency S. Van Erum, D. Gnat, C. Finne, D. Blum, C. Vanhelleput, E. Vamos and F. Vertongen 146 A treatable familial neuromyopathy with vitamin E deficiency, normal absorption, and evidence of increased consumption of vitamin E A. Kohlschiitter, C. Hubner, W. Jansen and S. G. Lindner 149 Fat malabsorption, vitamin E deficiency, scoliosis and cataracts R. D. Griffiths, C. J. Taylor, D. M. Isherwood and M. J. Jackson 153 Familial high-density lipoprotein deficiency (Tangier disease): the third ltalan case G. Bracco, G. Dotti, F. Levis, E. David, G. Saracco, M. Rizzetto and G. Verme 155 Failure of taurine to improve fat absorption in cystic fibrosis G. N. Thompson 158 Peroxisomes and peroxisomal functions in hyperpipecolic acidaemia R. J. A. Wanders, C. W. T. van Roermund, M. J. A. van Wijland, R. B. H. Schutgens, J. M. Tager, H. van den Bosch and G. H. Thomas 161 Bile acid analyses in 'pseudo-Zellweger' syndrome: clues to the defect in peroxisomal 13-oxidation P. T. Clayton, B. D. Lake, M. Hjelm, J. B. P. Stephenson, G. T. N. Besley, R. J. A. Wanders, A. W. Schram, J. M. Tager, R. B. H. Schutgens and A.M. Lawson 165 Adrenomyeloneurodystrophy with late cerebral involvement and evidence of a multiple autoimmune disorder A. Federico, M. T. Dotti, P. Annunziata, U. Bonuccelli, G. Fenzi, G. Ciacci, A. Malandrini, G. Meucci and G. C. Guazzi 169 X-linked adrenoleukodystrophy: identification of the primary defect at the level of a deficient peroxisomal very-long-chain fatty acyl-CoA synthetase using a newly developed method for the isolation of peroxisomes from skin fibroblasts R. J. A. Wanders, C. W. T. van Roermund, M. J. A. van Wijland, R. B. H. Schutgens, A. W. Schram, J. M. Tager, H. van den Bosch and C. Schalkwijk 173 Infanto-juvenile encephaloneuropathy and pigmentary retinopathy in a girl, associated with congenital adrenal insufficiency and altered plasma medium chain fatty acid levels A. Federico, G. Barachini, M. T. Dotti, L. Ibba, A. Malandrini, G. Ciacci, M. Meloni, S. Palmeri, A. Pompella and G. C. Guazzi 178 Familial hypo ketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6-C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation? B. T. Poll-The, J. P. Bonnefont, H. Ogier, C. Charpentier, A. Pelet, J. M. le Fur, C. Jakobs, R. M. Kok, M. Duran, P. Divry, J. Scotto and J. M. Saudubray 183 A new type of mitochondrial encephalomyopathy with stroke-like episodes due to cytoch- rome oxidase deficiency P. Maertens, R. Richardson, F. Bastian, J. P. Williams and F. Hommes 186 Cytochrome c oxidase deficiency in three patients with Leigh's disease M. DiRocco, E. Veneselli, M. 0. Ciccone, A. Taccone, M. Stroppiano and F. Cottafava 189 Histochemical, ultrastructural and biochemical study of muscle mitochondria in Leber's hereditary optic atrophy A. Federico, L. Manneschi, M. Meloni, C. Alessandrini, A. M. Bardelli, M. T. Dotti and P. Sabatelli 193 Morphometric and biochemical study of muscle mitochondria in adult chronic progressive external ophthalmoplegia (ACPEO) A. Federico, L. Manneschi, P. Sabatelli, M. T. Dotti, G. Ciacci, L. Ibba and R. Gerli 198 Cytochrome c oxidase: organ-specific isoenzymes and deficiencies K. M. C. Sinjoro, T. B. M. Hakvoort, A. 0. Miujsers, A. W. Schram and J. M. Tager 202 vii Enzymatic heterogeneity in primary hyperoxaluria type 1 (hepatic peroxisomal alan ine:glyoxylate aminotransferase deficiency) C. J. Danpure and P. R. Jennings 205 Diversity in residual alanine glyoxylate aminotransferase activity in hyperoxaluria type I: correlation with pyridoxine-responsiveness R. J. A. Wanders, C. W. T. van Roermund, S. Jurriaans, R. B. H. Schutgens, J. M. Tager, H. van den Bosch, E. D. Wolff, H. Przyrembel, R. Berger, F. G. Schaaphok, W. Reitsma and W. H. J. van Luyk 208 The subcellular metabolism of glyoxylate in primary hyperoxaluria type I: the relationship between glycine production and oxalate overproduction G. N. Thompson, P. Purkiss and C. J. Danpure 212 Primary hyperoxaluria and L-glyceric aciduria in the cat W. F. Blakemore, M. F. Heath, M. J. Bennett, C. H. Cromby and R. J. Pollitt 215 Clinical effects of serine medication in non-ketotic hyperglycinaemia due to deficiency of P protein of the glycine cleavage complex F. A. Wijburg, C. J. de Groot, R. B. H. Schutgens, P. G. Barth and K. Tada 218 The use of phenyl propionic acid as a loading test for medium-chain acyl-CoA dehydrogenase deficiency J. W. T. Seakins and G. Rumsby 221 Odd-numbered long-chain fatty acid contents in erythrocyte membrane phospholipids in patients with an impaired propionate utilization U. Wendel, E. Diekmann and M. D. Laryea 225 Mevalonic aciduria: pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblasts G. Hoffmann, K. M. Gibson, W. L. Nyhan and L. Sweetman 229 A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anaemia, thrombocytopaenia and leukocytosis J. B. C. de Klerk, M. Duran, L. Dorland, H. A. A. Brouwers, L. Bruinvis and D. Ketting 233 A closer look at the eye in homocystinuria - a screened population J. P. Burke, M. 0' Keefe, R. Bowell and E. R. Naughten 237 Peptiduria presumably caused by aminopeptidase-P deficiency. A new inborn error of metabolism N. Blau, A. Niederwieser and D. H. Shmerling 240 Early morning urine galactitol levels in relation to galactose intake: a possible method of monitoring the diet in galactokinase deficiency J. T. Allen, J. B. Holton, A. C. Lennox and I. C. Hodges 243 Cataracts in children with classical galactosaemia and in their parents J. P. Burke, M. O'Keefe, R. Bowell and E. R. Naughten 246 A patient with severe type of epimerase deficiency galactosaemia I. B. Sardharwalla, J. E. Wraith, C. Bridge, B. Fowler and S. A. Roberts 249 Branching enzyme in erythrocytes. Detection of type IV glycogenosis homozygotes and heterozygotes Y. S. Shin, H. Steiguber, P. Klemm, W. Endres, 0. Schwab and G. Wolff 252 ~-Mannosidosis in two brothers with hearing loss L. Dorland, M. Duran, F. E. T. Hoefnagels, J. N. Breg, H. Fabery de Jonge, K. Cransbery, F. J. van Sprang and 0. P. van Diggelen 255 Infantile sialic acid storage disease in two siblings A. Cooper, I. B. Sardharwalla, M. Thornley and K. P. Ward 259 Evaluation of lysosomal enzymes in uncultured and cultured chorionic villi and amniocytes G. Bartalini, M. A. Margollicci, P. Balestri and A. Fois 263 Author Index Agostoni, C. 143 Federico, A. 169, 178, 193, Margollicci, M. A. 263 Alessandrini, C. 193 198 Mcintyre, N. 45 Allen, J. T. 243 Fenzi, G. 169 McPherson, M. A. 94 Annunziata, P. 169 Finne, C. 146 Meloni, M. 178, 193 Balestri, P. 263 Fois, A. 263 Meucci, G. 169 Baracchini, G. 178 Fowler, B. 249 Miujsers, A. 0. 202 Bardelli, A. M. 193 le Fur, J. M. 183 Naughten, E. R. 237, 246 Bartalini, G. 263 Galluzzo, C. 143 Niederwieser, A. 240 Barth, P. G. 218 Gerli, R. 198 Nyhan, W. L. 229 Bastian, F. 186 Gibson, K. M. 229 O'Keefe, M. 237, 246 Beil, F. U. 29 Gillon, R. 120 Ogier, H. 183 Bennet, M. J. 215 Giovannini, M. 143 Palmeri, S. 178 Berger, IL 208 Gnat, D. 146 Pelet, A. 183 Besley, G. T. N. 165 Green, A. 91 Poll-The, B. T. 183 Blades, B. L. 87 Greten, H. 29 Pollitt, R. J. 215 Blakemore, W. F. 215 Griffiths, R. D. 153 Polonovski. J. 139 Blau, N. 240 de Groot, C. J. 218 Pompella, A. 178 c. Blum, D. 146 Guazzi, G. 169, 178 Przyrembel, H. 208 Bonnefont, J. P. 183 Hakvoort, T. B. M. 202 Purkiss, P. 212 Bonuccelli, U. 169 Heath, M. F. 215 Rawlings, A. V. 135 van den Bosch, H. 161, 173, Hjelm, M. 165 Reitsma, W. 208 208 Hodges, I. C. 243 Richardson, R. 186 Bowell, R. 237, 246 Hoefnagels, F. E. T. 255 Riva, E. 143 Bracco, G. 155 Hoffmann, G. 229 Rizzetto, M. 155 Breg, J. N. 255 Holtam, Rev. N. R. 111 Roberts, S. A. 249 Brenton, D. P. 110 Holton, J. B. 243 van Roermund, C. W. T. Bridge, C. 249 Hommes, F. 186 161, 173, 208 Brindley, D. N. 4 Hubner, C. 149 Rumsby, G. 221 Browers, H. A. A. 233 Humphries, S. 33 Sabatelli, P. 193, 198 Bruinvis, L. 233 Ibba, L. 178, S198 Salter, A. M. 4 Buchanan, E. 91 Isherwood, D. M. 153 Saracco, G. 155 Burke, J.P. 237, 246 Jackson, M. J. 153 Sardharwalla, I. B. 249, Charpentier, C. 183 Jakobs, C. 183 259 Ciacci, G. 169, 178, 198 Jansen, W. 149 Saudubray, J. M. 183 Ciccone, M. 0. 189 Jeenah, M. 33 Schaaphok, F. G. 208 Clayton, P. T. 165 Jennings, P. R. 205 Schalkwijk, C. 173 Cooper, A. 259 Jurriaans, S. 208 Schram, A. W. 165, 173, Cottafava, F. 189 Ketting, D. 233 202 Cransberg, K. 255 Klemm, P. 252 Schutgens, R. B. H. 161, Cromby, C. H. 215 de Klerk, J. B. C. 233 165, 173, 208, 218 Danpure, C. J. 205, 212 Kohlschtitter, A. 149 Schwab, 0. 252 David, E. 155 Kok, R. M. 183 Scotto, J. 183 Deegan, T. 135 Kwiterovich, Jr, P. 0. 57 Seakins, J. W. 110, 221 Di Rocco, M. 189 Lageron, A. 139 Seed, M. 33 Diekmann, E. 225 Lake, B. D. 165 Shin, Y. S. 252 Van Diggelen, 0. P. 255 Laryea, M. D. 225 Shmerling, D. H. 240 Divry, P. 183 Lawson, A. M. 165 Sinjoro, K. M. C. 202 Dorland, L. 233, 255 Lennox, A. C. 243 van Sprang, F. J. 255 Dotti, G. 155, 169, 178, Levis, F. 155 Steiguber, H. 252 193, 198 Lindner, S. G. 149 Stephenson, J. B. P. 165 Dudman, N. P. B. 87 Longhi, R. 143 Stroppiano, M. 189 Duran, M. 183, 233, 255 van Luyk, W. H. J. 208 Sweetman, L. 229 Endres, W. 252 Maertens, P. 186 Taccone, A. 189 Van Erum, S. 146 Malandrini, A. 169, 178 Tada, K. 218 Fabery de Jonge. H. 255 Manneschi, L. 193, 198 Tager, J. M. 161, 165, 173, ix X 202, 208 Vamos, E. 146 Wijburg, F. A. 218 Tarlow, M. 91 Vanhelleput, C. 146 van Wijland, M. J. A. 161, Taylor, C. J. 153 Veneselli, E. 189 173 Taylor, R. 33 Vergani, C. 143 Wilchen, D. E. L. 87 Thomas, G. H. 161 Verme, G. 155 Williams, J. P. 186 Thompson, G. N. 18, 155, Vertongen, F. 146 Wolff, E. D. 208 212 Wanders, R. J. A. 161, 165, Wolff, G. 252 Thomley, M. 259 173,208 Worthington, D. 91 Utermann, G. 74 Ward, K. P. 259 Wraith, J. E. 249 Valsasina, R. 143 Wendel, W. 225 Title Index Adrenomyeloneurodystrophy with late cerebral involvement and evidence of a multiple autoimmune disorder 169 Antenatal diagnosis and the termination of pregnancy-what the churches have to say 111 Apolipoprotein polymorphism and multifactorial hyperlipidaemia 74 Bile acid analyses in 'pseudo-Zellweger' syndrome: clues to the defect in peroxisomal ~-oxidation 165 Biochemical, genetic and metabolic studies of hyperapobetalipoproteinaemia 57 The biochemistry of lipoproteins 4 Branching enzyme in erythrocytes. Detection of type IV glycogenosis homozygotes and heterozygotes 252 Cataracts in children with classical galactosaemia and in their parents 246 Cholesteryl ester storage disease with secondary lecithin cholesterol acyl transferase deficiency 146 Cholesteryl ester storage disease: risk factors for atherosclerosis in a 15-year-old boy 143 Clinical consequences of hyperlipidaemia 18 Clinical effects of serine medication in non-ketotic hyperglycinaemia due to deficiency of P-protein of the glycine cleavage complex 218 A closer look at the eye in homocystinuria - a screened population 237 Cytochrome c oxidase deficiency in three patients with Leigh's disease 189 Cytochrome c oxidase: organ-specific isoenzymes and deficiencies 202 Discussion 125 Diversity in residual alanine glyoxylate aminotransferase activity in hyperoxaluria type I: correlation with pyridoxine-responsiveness 208 Early morning urine galactitollevels in relation to galactose intake: a possible method of monitoring the diet in galactokinase deficiency 243 Enzymatic heterogeneity in primary hyperoxaluria type 1 (hepatic peroxisomal alanine:glyoxylate amino- transferase deficiency) 205 An erroneous apolipoprotein E-3 band in high density lipoprotein fractions 135 Ethics and clinical practice 120 Evaluation of lysosomal enzymes in uncultured and cultured chorionic villi and amniocytes 263 Failure of taurine to improve fat absorption in cystic fibrosis 158 Familial high-density lipoprotein deficiency (Tangier disease): the third Italian case 155 Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C&- C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation? 183 Familial LCAT deficiency and fish eye disease 45 Fat malabsorption, vitamin E deficiency, scoliosis and cataracts 153 Histochemical abnormalities in liver and jejunal biopsies from a case of cholesterol ester storage disease 139 Histochemical, ultrastructural and biochemical study of muscle mitochondria in Leber's hereditary optic atrophy 193 Infantile sialic acid storage disease in two siblings 259 Infanto-juvenile encephaloneuropathy and pigmentary retinopathy in a girl, associated with congenital adrenal insufficiency and altered plasma medium chain fatty acid levels 178 Lipase deficiencies 29 ~-Mannosidosis in two brothers with hearing loss 255 Mevalonic aciduria: pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblasts 229 Morphometric and biochemical study of muscle mitochondria in adult chronic progressive external ophthalmo plegia (ACPEO) 198 A neonatal screening approach to the detection of familial hypercholesterolaemia and family-based coronary prevention 87 xi
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