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Closing the gap between individuals remaining un/misdiagnosed and those with an accurate diagnosis

Inherited metabolic disorders are frequently considered too rare for inclusion in the primary differential and the wide variety of clinical manifestations inherent in these conditions augments the protracted diagnostic odyssey. Heretofore diagnostic algorithms, more often than not, do not fully inform on disease course, adding further to the diagnostic confusion.

As new, proposed treatments and cascade testing of family members pervade the inherited metabolic disease space, early diagnosis along with accompanying prognosis become increasingly important. Evidence garnered to date has taught us that the efficacy of any therapy will rely heavily upon early detection for treatment initiation before the onset of irreversible pathology.

Contemporary advances in scientific methodologies have benefited from not only an increase in our understanding of the biochemistry of these disorders but also technological progress in laboratory instrumentation. Indeed, the discovery of biomarkers is already making an impact and will undoubtedly lead to improvements in the efficiency of diagnosis.

The Paediatric Resource Centre will charter the latest developments along the trajectory towards timely and accurate diagnoses, closing the gap between individuals remaining un/misdiagnosed and those with an accurate diagnosis. It is a most exciting time to be commenting in this field as new technologies, such as mass spectrometry, facilitate this goal.


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About the Editors

All content available on the Paediatric Resource Centre, including original and review articles, commentaries and interviews, guidelines, conference highlights, case reports is independently selected by members of the Editorial Board.

Associate Professor Maria Fuller

Maria currently holds a translational role in Genetics and Molecular Pathology within the South Australian Pathology service to deliver research outcomes into the diagnostic arena.

Paediatric Resource Centre

The Paediatric Resource Centre is dedicated to offering you free access to specially selected peer-reviewed articles, editor’s perspectives, expert interviews, and conference news to keep you informed of the latest developments in the diagnosis, management and treatment of patients with paediatric disorders. These include metabolic disorders and lysosomal storage diseases such as Fabry disease, Pompe disease, Gaucher disease and mucopolysaccharidoses, among others. Led by an Editorial Board of internationally recognised experts Associate Professor Maria Fuller and Dr Katrina Dipple, the Paediatric Resource Centre is editorially independent and freely available to healthcare professionals in Australia and New Zealand. This Resource Centre is hosted by the highly regarded Elsevier journal Molecular Genetics and Metabolism.

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Congress Highlights

RACP Congress 2017

David Armor - Highlights RACP Congress 2017

David Armor MD, Clinical Geneticist at the Royal Children's Hospital and Victorian Clinical Genetics Services describes several areas of research in the genetics of intellectual disability and autism at RACP Congress 2017.

About the journal

Molecular Genetics and Metabolism is a contribution to the understanding of the metabolic basis of disease. The journal publishes articles describing investigations that use the tools of biochemistry and molecular biology for studies of normal and diseased states. In addition to original research articles, occasional minireviews reporting timely advances as well as brief communications and letters to the editor are considered.

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The Paediatric Resource Centre is funded by Sanofi Genzyme and developed by Elsevier. Sanofi Genzyme has no editorial control over the content of this Resource Centre. The Resource Centre and all content therein has been subject to an independent editorial review. The content expressed are those of the individual experts and the editorial board governed by Elsevier and do not necessarily express the view of Sanofi Genzyme.