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Article

Novel ABCC8 mutation in the genetic diagnosis of familial hyperinsulinaemic hypoglycaemia.

BMJ case reports - 12 Sept 2024

Kattamanchi Deepthi, Maralusiddappa Pradeep Gejjegenahalli Channabasappa, Manne Veerabhadraiah Krithika, Mangalgi Sharanabasavesh

Abstract excerpt

Familial hyperinsulinaemic hypoglycaemia-1 arises from mutations within the genes of pancreatic beta cells, resulting in unregulated insulin secretion from pancreatic beta cells. A 4.06 kg female neonate, born to a second-degree consanguineously married couple, presented with repeated asymptomatic hypoglycaemia. There was a significant history of a previous sibling's death from nesidioblastosis. Despite treatment...

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Identifiers

PMID: 39266029
DOI: 10.1136/bcr-2024-261701

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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