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Article

PNC2 (SLC25A36) Deficiency Associated With the Hyperinsulinism/Hyperammonemia Syndrome.

The Journal of clinical endocrinology and metabolism - 19 Apr 2022

Shahroor Maher A, Lasorsa Francesco M, Porcelli Vito, Dweikat Imad, Di Noia Maria Antonietta, Gur Michal, Agostino Giulia, Shaag Avraham, Rinaldi Teresa, Gasparre Giuseppe, Guerra Flora, Castegna Alessandra, Todisco Simona, Abu-Libdeh Bassam, Elpeleg Orly, Palmieri Luigi

Abstract excerpt

CONTEXT: The hyperinsulinism/hyperammonemia (HI/HA) syndrome, the second-most common form of congenital hyperinsulinism, has been associated with dominant mutations in GLUD1, coding for the mitochondrial enzyme glutamate dehydrogenase, that increase enzyme activity by reducing its sensitivity to allosteric inhibition by GTP. OBJECTIVE: To identify the underlying genetic etiology in 2 siblings who presented with...

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Identifiers

PMID: 34971397
DOI: 10.1210/clinem/dgab932

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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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