Neurometabolic disorders: Five new things.

ABSTRACT:

Purpose of review

To present emerging issues in neurometabolic disorders, with an emphasis on the diagnostic workup of patients with suspected neurometabolic disorders and some future challenges in the care for these patients.

Recent findings

Next-generation sequencing and next-generation metabolic screening increase the speed and yield of the diagnostic process in neurometabolic disorders. Furthermore, they deepen our insights into the underlying disease mechanisms. Care of adult patients with neurometabolic disorders is an expanding subspecialty, especially in internal medicine and neurology.

Summary

We briefly discuss some novel genetic and biochemical laboratory techniques and changing insights in the molecular basis of disease, and illustrate the importance of MR

SUBMITTER: Willemsen MA 

PROVIDER: S-EPMC5727707 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature