Neonatal Diabetes Mellitus Due to a Novel ABCC8 Gene Mutation Mimicking an Organic Acidemia
- First Online:
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 insulin injections. Genotyping revealed a homozygous novel mutation of the ABCC8 gene coding for the SUR1 subunit of the pancreatic beta cell potassium channel. Subsequently, the child was successfully transitioned to oral glibenclamide therapy. Developmental delay was noted on follow-up which raised the possibility of intermediate DEND syndrome. A possible cause for hyperammonemia in neonatal diabetes mellitus has been postulated in the discussion.
KeywordsPotassium channel Sulfonylurea receptor Dysmorphisms Pancreatic beta cell
- 1.De León DD, Stanley CA. Permanent neonatal diabetes mellitus. 2008 Feb 8 [Updated 2011 Jul 5]. In: Pagon RA, Bird TD, Dolan CR, et al., eds. Gene reviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1447/.
- 2.Edghill EL, Flanagan SE, Patch AM, Boustred C, Parish A, Shields B, et al. Insulin mutation screening in 1,044 patients with diabetes: Mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes. 2008;57:1034–42.PubMedCrossRefGoogle Scholar
- 3.Saudubray J, Charpentier C. Clinical phenotypes: Diagnosis/algorithms. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw Hill; 2001. pp. 1327–404.Google Scholar
- 4.MacMullen C, Fang J, Hsu BY, Kelly A, de Lonlay-Debeney P, Saudubray JM, et al. Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase. J Clin Endocrinol Metab. 2001;86:1782–7.PubMedGoogle Scholar