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Article

Permanent neonatal diabetes mellitus due to an ABCC8 mutation: a case report.

JOP : Journal of the pancreas - 10 Mar 2014

Abraham Nithya, Ahamed Anish, Unnikrishnan Ambika Gopalakrishnan, Kumar Harish, Ellard Sian

Abstract excerpt

CONTEXT: Neonatal diabetes is a rare disorder with an incidence of about 1 in 100,000 live births. It is defined as diabetes diagnosed in the first 6 months of life and it is vital to differentiate this entity from type 1 diabetes to enable accurate diagnosis, prognosis, genetic counseling and treatment. CASE REPORT: We describe a case of permanent neonatal diabetes mellitus due to a novel mutation affecting the...

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Source

Identifiers

PMID: 24618446
DOI: 10.6092/1590-8577/1947

Genes

ABCC8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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Permanent neonatal diabetes mellitus due to an ABCC8 mutation: a case report.PMID 24618446Read ↗

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Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.Semantic proximity Read ↗

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.Semantic proximity Read ↗

Neonatal diabetes mellitus due to a novel ABCC8 gene mutation mimicking an organic acidemia.Semantic proximity Read ↗

Clinical and Genetic Characteristics of ABCC8 Nonneonatal Diabetes Mellitus: A Systematic Review.Semantic proximity Read ↗

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.Semantic proximity Read ↗

Mutations in the ABCC8 (SUR1 subunit of the K(ATP) channel) gene are associated with a variable clinical phenotype.Semantic proximity Read ↗

Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene.Semantic proximity Read ↗

Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.Semantic proximity Read ↗

New ABCC8 mutations in relapsing neonatal diabetes and clinical features.Semantic proximity Read ↗

Transient neonatal diabetes due to a disease causing novel variant in the ATP-binding cassette subfamily C member 8 (ABCC8) gene unmasks maturity-onset diabetes of the young (MODY) diabetes cases within a family.Semantic proximity Read ↗

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