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New frontiers in neuroimaging applications to inborn errors of metabolism.

Abstract：

:Most inborn errors of metabolism (IEMs) are associated with potential for injury to the developing central nervous system resulting in chronic encephalopathy, though the etiopathophysiology of neurological injury have not been fully established in many disorders. Shared mechanisms can be envisioned such as oxidative injury due to over-activation of N-Methyl-d-Aspartate (NMDA) receptors with subsequent glutamatergic damage, but other causes such as energy depletion or inflammation are possible. Neuroimaging has emerged as a powerful clinical and research tool for studying the brain in a noninvasive manner. Several platforms exist to study neural networks underlying cognitive processes, white matter/myelin microstructure, and cerebral metabolism in vivo. The scope and limitations of these methods will be discussed in the context of valuable information they provide in the study and management of selected inborn errors of metabolism. This review is not meant to be an exhaustive coverage of diagnostic findings on MRI in multiple IEMs, but rather to illustrate how neuroimaging modalities beyond T1 and T2 images, can add depth to an understanding of the underlying brain changes evoked by the selected IEMs. Emphasis will be placed on techniques that are available in the clinical setting. Though technically complex, many of these modalities have moved - or soon will - to the clinical arena.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Prust MJ,Gropman AL,Hauser N

doi

10.1016/j.ymgme.2011.06.020

subject

Has Abstract

pub_date

2011-11-01 00:00:00

pages

195-205

issue

3

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(11)00207-1

journal_volume

104

pub_type

杂志文章,评审

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