Permanent neonatal diabetes mellitus
Other Names for this Disease
- Permanent diabetes mellitus of infancy
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diabetes that appears within the first 6 months of life and persists throughout life. Affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to thrive in infancy. Some individuals also have neurological problems including developmental delay and epilepsy; when these problems are present with PNDB, it is called DEND syndrome. A few individuals with PNDB also have an underdeveloped pancreas and may have digestive problems. PNDB is caused by mutations in any one of several genes (some of which have not yet been identified) including the KCNJ11, ABCC8, and INS genes. It may be inherited in an autosomal recessive or autosomal dominant manner. Treatment includes rehydration, insulin therapy and/or long-term therapy with oral sulfonylureas (in some cases).Permanent neonatal diabetes mellitus (PNDB) is a type of
Last updated: 8/24/2012
- Permanent neonatal diabetes mellitus. Genetics Home Reference. July 2011; http://ghr.nlm.nih.gov/condition/permanent-neonatal-diabetes-mellitus. Accessed 8/24/2012.
- Diva D De León and Charles A Stanley. Permanent Neonatal Diabetes Mellitus. GeneReviews. July 5, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1447/. Accessed 8/24/2012.
- DIABETESGENES.ORG provides information for patients and professionals on research and clinical care in genetic types of diabetes. Click on the link to learn more.
- Genetics Home Reference (GHR) contains information on Permanent neonatal diabetes mellitus. This website is maintained by the National Library of Medicine.
- The National Diabetes Information Clearinghouse (NDIC) was established in 1978 to increase knowledge and understanding about diabetes among patients, health care professionals, and the general public. Click on the link to view information on this topic.
- The National Kidney and Urologic Diseases Information Clearinghouse (NKUDIC), part of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), conducts and supports research on a broad spectrum of diseases affecting public health. Click on the link to view information on this topic.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Permanent neonatal diabetes mellitus. Click on the link to view a sample search on this topic.
- Colombo C, Porzio O, Liu M, Massa O, Vasta M, Salardi S et al. Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus. J Clin Invest. 2008 Jun;118(6): 2148-56.
- Stoy J, Greeley SA, Paz VP, Pastore AN, Skowron KB, Lipton RB et al. Diagnosis and treatment of neonatal diabetes: a United States experience. Pediatr Diabetes. 2008 Oct; 9(5):450-9. Epub 2008 Jul 25.