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Article

Congenital hyperinsulinism in a newborn with a novel homozygous mutation (p.Q392H) in the ABCC8 gene.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Nov 2014

Ince Deniz Anuk, Sahin Nursel Muratoglu, Ecevit Ayse, Kurt Abdullah, Kinik Sibel Tulgar, Flanagan Sarah E, Hussain Khalid, Tarcan Aylin

Abstract excerpt

Congenital hyperinsulinism is the most frequent cause of persistent hypoglycemia in infancy. We present the case of a preterm, large-for-gestation-age infant with congenital hyperinsulinism who was found to have a novel p.Q392H homozygous mutation in the ABCC8 gene. The patient had severe brain damage, despite early diagnosis and appropriate management. The new mutations may provide an understanding of the...

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Source

Identifiers

PMID: 24945427
DOI: 10.1515/jpem-2014-0072

Genes

ABCC8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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