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

Overview

Journal Brain Sci

Publisher MDPI

Date 2022 Mar 25

PMID 35326344

Authors

Karim Gariani

Antoine Klauser

Maria Isabel Vargas

Francois Lazeyras

Christel Tran

Affiliations

Soon will be listed here.

Abstract

Hyperinsulinism/hyperammonemia syndrome (HI/HA) is an autosomal dominant disorder caused by monoallelic activating mutations in the glutamate dehydrogenase 1 () gene. While hyperinsulinism may be explained by a reduction in the allosteric inhibition of , 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.

Citing Articles

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Lin H, Enchautegui-Colon Y, Huang Y, Zimmerman C, DeMarzo D, Chun-Hui Tsai A Mol Genet Metab Rep. 2022; 33:100942.

PMID: 36466970 PMC: 9709223. DOI: 10.1016/j.ymgmr.2022.100942.

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