Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria

1. Front Matter

   Pages N3-N3

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2. Preface

   • R. A. Harkness

   Pages 393-394

3. Mechanisms of Blood Glucose Homeostasis

   • H.-G. Hers

   Pages 395-410

4. The Long-term Outcome of Patients with Glycogen Storage Diseases

   • G. P. A. Smit, J. Fernandes, J. V. Leonard, E. E. Matthews, S. W. Moses, M. Odievre et al.

   Pages 411-418

5. Diagnosis of Glycogen Storage Disease

   • Y. S. Shin

   Pages 419-434

6. Molecular Genetics of Phosphorylase Kinase: cDNA Cloning, Chromosomal Mapping and Isoform Structure

   • M. W. Kilimann

   Pages 435-441

7. Phosphorylase b Kinase Deficiency in Man: a Review

   • I. E. T. van den Berg, R. Berger

   Pages 442-451

8. Muscle Glycogenosis

   • S. W. Moses

   Pages 452-465

9. Inherited Disorders of Carbohydrate Metabolism in Children Studied by 13C-Labelled Precursors, NMR and GC-MS

   • A. Lapidot

   Pages 466-475

10. Galactose Disorders: an Overview

    • J. B. Holton

    Pages 476-486

11. Regulation of Galactose Metabolism: Implications for Therapy

    • S. Segal, S. Rogers

    Pages 487-500

12. The Mechanisms of Cataract Formation

    • C. Schmitt, O. Hockwin

    Pages 501-508

13. Cataract and Metabolic Disease

    • W. Endres, Y. S. Shin

    Pages 509-516

14. Plasma Polyol Levels in Patients with Cataract

    • C. Jakobs, A. C. Douwes, M. Brockstedt, F. Stellaard, W. Endres, Y. S. Shin

    Pages 517-522

15. Disorders of Glycoprotein Degradation

    • M. Cantz, B. Ulrich-Bott

    Pages 523-537

16. α- and β- Mannosidoses

    • A. Cooper, C. E. Hatton, M. Thornley, I. B. Sardharwalla

    Pages 538-548

17. Schindler Disease: an Inherited Neuroaxonal Dystrophy due to α-N-Acetylgalactosaminidase Deficiency

    • R. J. Desnick, A. M. Wang

    Pages 549-559

18. Advances in the Molecular Genetics of Metachromatic Leukodystrophy

    • V. Gieselmann, K. von Figura

    Pages 560-571

19. Displacement Bone Marrow Transplantation for Some Inborn Errors

    • J. R. Hobbs

    Pages 572-596

20. Clinical Application of Somatic Gene Therapy in Inborn Errors of Metabolism

    • F. D. Ledley

    Pages 597-616

394 finding by Dr C. Jakobs, Amsterdam, was elevated plasma galactitol and/or sorbitol levels in some cataract patients with quite normal activities of the galactose-degrading enzymes and sorbitol dehydrogenase in RBC. Inherited disorders of glycoprotein metabolism were reviewed by Dr M. Cantz, Heidelberg, followed by detailed presentations on selected disorders. The meeting was closed by two exciting lectures, given by Dr J. R. Hobbs, London, and Dr F. Ledley, Houston, on the outcome of bone marrow transplantation and on future aspects of gene therapy in patients with inborn errors of metabolism. Each year the 'Mini' Symposium preceding the main topics attracts increasing numbers and in Munich more than half of the 281 active participants also attended on "Maternal Phenylketonuria", organized by Dr the highly interesting workshop D. Brenton, London. This four-hour workshop included international practical experiences in the treatment of maternal phenylketonuria as well as the results of amino acid transport and animal experiments.

• Alanin
• Chromosom
• Galactose
• Glycogen
• gene therapy
• genes
• genetics
• homeostasis
• metabolism
• transplantation

• Department of Clinical Biochemistry, Institute of Child Health, London, UK

  R. A. Harkness

• Sheffield, UK

  R. J. Pollitt

• Manchester, UK

  G. M. Addison

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