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Article

Neonatal diabetes mellitus due to a novel ABCC8 gene mutation mimicking an organic acidemia.

Indian journal of pediatrics - 1 Jul 2014

Thakkar Akanksha N, Muranjan Mamta N, Karande Sunil, Shah Nalini S

Abstract excerpt

Neonatal diabetes mellitus and organic acidemias, may present with similar features like hyperglycemia, ketoacidosis and failure to thrive. A four-mo-old girl presented with diabetic ketoacidosis following a febrile respiratory illness during which high anion gap metabolic acidosis and hyperglycemia were detected. She also had hyperammonemia, which led to diagnostic uncertainty. Euglycemia was achieved with...

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Share to Diabetes Mellitus
Share to Diagnosis, Differential
Share to ABCC8 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperammonemia

Share to Infant

Share to Infant, Newborn

Share to Mutation

Share to Sulfonylurea Receptors

Source

Identifiers

PMID: 23783767
DOI: 10.1007/s12098-013-1102-z

Genes

ABCC8

Provenance

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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