Neurometabolic Hereditary Diseases of Adults

  • Alessandro P. Burlina

Table of contents

  1. Front Matter
    Pages i-xiv
  2. Dominique P. Germain, Iulia E. Jurca-Simina
    Pages 1-28
  3. Renzo Manara, Alessandro P. Burlina
    Pages 43-65
  4. Alessandro P. Burlina, Juan Politei
    Pages 67-98
  5. Alexander Peter Murphy, Volker Straub
    Pages 99-120
  6. Yann Nadjar, Marie T. Vanier
    Pages 121-146
  7. France Woimant, Pascal Chaine, Aurélia Poujois
    Pages 147-168
  8. Charles Marques Lourenço
    Pages 169-174
  9. Back Matter
    Pages 175-181

About this book


This practical book describes only neurometabolic hereditary diseases which have a specific treatment and encourages the general neurologist to think of the most common neurometabolic hereditary diseases, which he might have seen and never considered in the differential diagnosis. Information regarding how to deal with diseases with special therapy is provided (i.e. enzymatic replacement therapy in Fabry disease and Pompe disease), as is information on diseases which are not easily recognized (i.e. Niemann-Pick disease type C), and diseases with clinical features mimicking other common neurodegenrative diseases (i.e. Wilson's disease). Neurometabolic Hereditary Diseases is written with a clinical focus for adult neurologists working in general hospitals.


Fabry disease Niemann-Pick type C Pompe disease Treatable neurometabolic disease Wilson disease neurometabolic hereditary disease inherited metabolic disease newborn screening neuroimaging Homocystinuria

Editors and affiliations

  • Alessandro P. Burlina
    • 1
  1. 1.Neurological UnitSt Bassiano HospitalBassano del GrappaItaly

Bibliographic information

  • DOI
  • Copyright Information Springer International Publishing AG, part of Springer Nature 2018
  • Publisher Name Springer, Cham
  • eBook Packages Medicine
  • Print ISBN 978-3-319-76146-6
  • Online ISBN 978-3-319-76148-0
  • Buy this book on publisher's site