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Article

Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.

Journal of inherited metabolic disease - 1 Jul 2023

Safran Amit, Proskorovski-Ohayon Regina, Eskin-Schwartz Marina, Yogev Yuval, Drabkin Max, Eremenko Ekaterina, Aharoni Sarit, Freund Ofek, Jean Matan M, Agam Nadav, Hadar Noam, Loewenthal Neta, Staretz-Chacham Orna, Birk Ohad S

Abstract excerpt

Hyperinsulinism/hyperammonemia (HI/HA) syndrome has been known to be caused by dominant gain-of-function mutations in GLUD1, encoding the mitochondrial enzyme glutamate dehydrogenase. Pathogenic GLUD1 mutations enhance enzymatic activity by reducing its sensitivity to allosteric inhibition by GTP. Two recent independent studies showed that a similar HI/HA phenotype can be caused by biallelic mutations in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36695547
DOI: 10.1002/jimd.12594

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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