Permanent neonatal diabetes mellitus

Definition:

Neonatal diabetes mellitus (NDM), which is a monogenic form of diabetes, is a heterogeneous group of disorders characterized by hyperglycemia in the first 6 months of life. NDM is categorized into transient (TNDM) and permanent (PNDM). In the case of PNDM, the condition does not resolve over time. The most frequent causes of PNDM are heterozygous mutations in the KCNJ11, INS and ABCC8 genes that play a critical role in insulin secretion from pancreatic beta-cells. The responsible genes remain unknown in up to 40% of patients.

References:

[1]. Anna L Gloyn, et al. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med. 2004 Apr 29;350(18):1838-49. [Content Brief]

[2]. Gabrielle S Sellick, et al. Mutations in PTF1A cause pancreatic and cerebellar agenesis. Nat Genet. 2004 Dec;36(12):1301-5. [Content Brief]

[3]. Julie Støy, et al. Insulin gene mutations as a cause of permanent neonatal diabetes. Proc Natl Acad Sci U S A. 2007 Sep 18;104(38):15040-4. [Content Brief]

[4]. Marc Nicolino, et al. A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency. Diabetes. 2010 Mar;59(3):733-40. [Content Brief]

[5]. Michel Polak, et al. Neonatal diabetes mellitus: a disease linked to multiple mechanisms. Orphanet J Rare Dis. 2007 Mar 9;2:12. [Content Brief]

[6]. Oscar Rubio-Cabezas, et al. Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants. Eur J Clin Invest. 2011 Mar;41(3):323-33. [Content Brief]

[7]. P R Njølstad, et al. Neonatal diabetes mellitus due to complete glucokinase deficiency. N Engl J Med. 2001 May 24;344(21):1588-92. [Content Brief]

[8]. Peter Proks, et al. A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. Hum Mol Genet. 2006 Jun 1;15(11):1793-800. [Content Brief]

[9]. Rosa Bacchetta, et al. Defective regulatory and effector T cell functions in patients with FOXP3 mutations. J Clin Invest. 2006 Jun;116(6):1713-22. [Content Brief]

[10]. Valérie Senée, et al. Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. Nat Genet. 2006 Jun;38(6):682-7. [Content Brief]

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