Three cases of permanent neonatal diabetes mellitus: Genotypes and management outcome

Hooi Leng Ooi, Loo Ling Wu

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Neonatal diabetes mellitus (DM) is defined as insulin-requiring DM in the first six months of life. Unlike type 1 DM, it is a monogenic disorder resulting from a de novo mutation in the genes involved in the development of the pancreas, β-cell mass or secretory function. The majority of neonatal DM cases are caused by a heterozygous activating mutation in the KCNJ11 or ABCC8 genes that encode the Kir6.2 and SUR1 protein subunits, respectively, in the KATP channel. Sulphonylurea, a KATP channel inhibitor, can restore insulin secretion, hence offering an attractive alternative to insulin therapy. We report three cases of neonatal DM and their genetic mutations. Two patients were successfully switched over to sulphonylurea monotherapy with resultant improvement in the quality of life and a more stable blood glucose profile. Patients with neonatal DM should undergo genetic evaluation. For patients with KCNJ11 and ABCC8 gene mutation, oral sulphonylurea should be considered.

Original languageEnglish
JournalSingapore Medical Journal
Volume53
Issue number7
Publication statusPublished - Jul 2012

Fingerprint

Diabetes Mellitus
Genotype
KATP Channels
Mutation
Insulin
Genes
Protein Subunits
Type 1 Diabetes Mellitus
Blood Glucose
Pancreas
Quality of Life
Permanent Neonatal Diabetes Mellitus
Therapeutics

Keywords

  • ABCC8 gene mutation
  • KCNJ11 gene mutation
  • Neonatal diabetes mellitus
  • Sulphonylurea therapy

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Three cases of permanent neonatal diabetes mellitus : Genotypes and management outcome. / Ooi, Hooi Leng; Wu, Loo Ling.

In: Singapore Medical Journal, Vol. 53, No. 7, 07.2012.

Research output: Contribution to journalArticle

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