PMID- 21778100
OWN - NLM
STAT- MEDLINE
DCOM- 20120228
LR  - 20211020
IS  - 1096-7206 (Electronic)
IS  - 1096-7192 (Print)
IS  - 1096-7192 (Linking)
VI  - 104
IP  - 3
DP  - 2011 Nov
TI  - New frontiers in neuroimaging applications to inborn errors of metabolism.
PG  - 195-205
LID - 10.1016/j.ymgme.2011.06.020 [doi]
AB  - 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.
CI  - Copyright A(c) 2011 Elsevier Inc. All rights reserved.
FAU - Prust, Morgan J
AU  - Prust MJ
AD  - Department of Neurology, Children's National Medical Center, Washington, D.C. 
      20010, USA.
FAU - Gropman, Andrea L
AU  - Gropman AL
FAU - Hauser, Natalie
AU  - Hauser N
LA  - eng
GR  - U54 HD061221/HD/NICHD NIH HHS/United States
GR  - U54 RR019453/RR/NCRR NIH HHS/United States
PT  - Journal Article
PT  - Review
DEP - 20110630
PL  - United States
TA  - Mol Genet Metab
JT  - Molecular genetics and metabolism
JID - 9805456
SB  - IM
MH  - Diffusion Tensor Imaging/*methods
MH  - Humans
MH  - Magnetic Resonance Imaging/*methods
MH  - Magnetic Resonance Spectroscopy/*methods
MH  - Metabolism, Inborn Errors/*diagnosis/pathology
MH  - Nerve Net/*pathology
PMC - PMC3758691
MID - NIHMS499499
COIS- Conflict of interest The authors have no conflicts of interest to declare that 
      impact the content of this review.
EDAT- 2011/07/23 06:00
MHDA- 2012/03/01 06:00
PMCR- 2013/08/31
CRDT- 2011/07/23 06:00
PHST- 2011/03/13 00:00 [received]
PHST- 2011/06/25 00:00 [revised]
PHST- 2011/06/26 00:00 [accepted]
PHST- 2011/07/23 06:00 [entrez]
PHST- 2011/07/23 06:00 [pubmed]
PHST- 2012/03/01 06:00 [medline]
PHST- 2013/08/31 00:00 [pmc-release]
AID - S1096-7192(11)00207-1 [pii]
AID - 10.1016/j.ymgme.2011.06.020 [doi]
PST - ppublish
SO  - Mol Genet Metab. 2011 Nov;104(3):195-205. doi: 10.1016/j.ymgme.2011.06.020. Epub 
      2011 Jun 30.