New Insight in Hyperinsulinism/Hyperammonemia Syndrome by Magnetic Resonance Imaging and Spectroscopy.

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State: Public
Version: author
License: CC BY 4.0
Serval ID
serval:BIB_7238B318E84F
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
New Insight in Hyperinsulinism/Hyperammonemia Syndrome by Magnetic Resonance Imaging and Spectroscopy.
Journal
Brain sciences
Author(s)
Gariani K., Klauser A., Vargas M.I., Lazeyras F., Tran C.
ISSN
2076-3425 (Print)
ISSN-L
2076-3425
Publication state
Published
Issued date
15/03/2022
Peer-reviewed
Oui
Volume
12
Number
3
Pages
389
Language
english
Notes
Publication types: Case Reports
Publication Status: epublish
Abstract
Hyperinsulinism/hyperammonemia syndrome (HI/HA) is an autosomal dominant disorder caused by monoallelic activating mutations in the glutamate dehydrogenase 1 (GLUD1) gene. While hyperinsulinism may be explained by a reduction in the allosteric inhibition of GLUD1, the pathogenesis of HA in HI/HA remains uncertain; interestingly, HA in the HI/HA syndrome is not associated with acute hyperammonemic intoxication events. We obtained a brain magnetic resonance (MR) in a woman with HI/HA syndrome with chronic asymptomatic HA. On MR spectroscopy, choline and myoinositol were decreased as in other HA disorders. In contrast, distinct from other HA disorders, combined glutamate and glutamine levels were normal (not increased). This observation suggests that brain biochemistry in HI/HA may differ from that of other HA disorders. In HI/HA, ammonia overproduction may come to the expense of glutamate levels, and this seems to prevent the condensation of ammonia with glutamate to produce glutamine that is typical of the other HA disorders. The absence of combined glutamate and glutamine elevation might be correlated to the absence of acute cerebral ammonia toxicity.
Keywords
brain spectroscopy, glutamate dehydrogenase, hyperammonemia, hyperinsulinism
Pubmed
Web of science
Open Access
Yes
Create date
09/04/2022 20:05
Last modification date
28/07/2022 6:36
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