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.
Latest editor's commentary
MPS type I and II: Impact on neurological outcomes following AAV-mediated gene delivery and expression of iduronidase in the CNS. Review of two recent papers in Human Gene TherapyCommentary by Maria Fuller: The severe phenotypes of mucopolysaccharidoses (MPS) type I and II are largely refractive to enzyme replacement...
Anne H. O'Donnell-Luria, Alexander P. Lin, Sai K. Merugumala, Frances Rohr, Susan E. Waisbren, Rebecca Lynch, Vatche Tchekmedyian, Aaron D. Goldberg, Andrew Bellinger, J. Ricardo McFaline-Figueroa, Tracey Simon, Esteban F. Gershanik, Bruce D. Levy, David E. Cohen, Martin A. Samuels, Gerard T. Berry, Natasha Y. Frank
Molecular Genetics and Metabolism, Volume 121, Issue 1, May 2017, Pages 9 - 15
Deborah A. Bilder, Joyce A. Kobori, Jessica L. Cohen-Pfeffer, Erin M. Johnson, Elaina R. Jurecki, Mitzie L. Grant
Molecular Genetics and Metabolism, Volume 121, Issue 1, May 2017, Pages 1 - 8
Esmee Oussoren, Johannes H.J.M. Bessems, Virginie Pollet, Jan C. van der Meijden, Lianne J. van der Giessen, Iris Plug, Annick S. Devos, George J.G. Ruijter, Ans T. van der Ploeg, Mirjam Langeveld
Molecular Genetics and Metabolism, In Press, Corrected Proof, Available online 19 May 2017, Available online 19 May 2017
Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease
Ilona Jaszczuk, Lars Schlotawa, Thomas Dierks, Andreas Ohlenbusch, Dominique Koppenhöfer, Mariusz Babicz, Monika Lejman, Karthikeyan Radhakrishnan, Agnieszka Ługowska
Molecular Genetics and Metabolism
Deodato F, Procopio E, Rampazzo A, Taurisano R, Donati MA, Dionisi-Vici C, Caciotti A, Morrone A, Scarpa M.Metab Brain Dis. 2017 Jun 3. doi: 10.1007/s11011-017-0044-y. [Epub ahead of print]
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.