Characterizing the neurological phenotype of the hyperinsulinism hyperammonemia syndrome

Characterizing the neurological phenotype of the hyperinsulinism hyperammonemia syndrome

Abstract 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...

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Bibliographic Details
Main Authors: Elizabeth Rosenfeld, Ravi Prakash Reddy Nanga, Alfredo Lucas, Andrew Y. Revell, Allison Thomas, Nina H. Thomas, David R. Roalf, Russel T. Shinohara, Ravinder Reddy, Kathryn A. Davis, Diva D. De León
Format: Article
Language:English
Published: BMC 2022-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
GLUD1
Hypoglycemia
Epilepsy
Glutamate
GluCEST
Online Access:https://doi.org/10.1186/s13023-022-02398-3

Internet

https://doi.org/10.1186/s13023-022-02398-3

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