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Article

Characterizing the neurological phenotype of the hyperinsulinism hyperammonemia syndrome.

Orphanet journal of rare diseases - 25 Jun 2022

Rosenfeld Elizabeth, Nanga Ravi Prakash Reddy, Lucas Alfredo, Revell Andrew Y, Thomas Allison, Thomas Nina H, Roalf David R, Shinohara Russell T, Reddy Ravinder, Davis Kathryn A, De León Diva D

Abstract excerpt

BACKGROUND: Hyperinsulinism hyperammonemia (HI/HA) syndrome is caused by activating mutations in GLUD1, encoding glutamate dehydrogenase (GDH). Atypical absence seizures and neuropsychological disorders occur at high rates in this form of hyperinsulinism. Dysregulated central nervous system (CNS) glutamate balance, due to GDH overactivity in the brain, has been hypothesized to play a role. This study aimed to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35752848
DOI: 10.1186/s13023-022-02398-3
PMCID: PMC9233810

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