Permanent neonatal diabetes mellitus (PNDM) is a newly identified and potentially treatable form of monogenic diabetes. This type of neonatal diabetes is caused by activating mutations of the KCNJ11 gene, which codes for the Kir6.2 subunit of the beta cell KATP channel.[1][2] This disease is considered to be a type of maturity onset diabetes of the young (MODY).
^Hattersley A, Gloyn A, Pearson E, Edgehill E, Flanagan S, Ellard S. Novel monogenic diabetes results from activating mutations in Kir6.2 Presented at the First Meeting for the European Group for the Study of Monogenic Diabetes ("MODY in Malaga"); Malaga, Spain, 21 October 2004. Published form should be available in 2005.
^Letha S, Mammen D, Valamparampil JJ (October 2007). "Permanent neonatal diabetes due to KCNJ11 gene mutation". Indian J Pediatr. 74 (10): 947–9. doi:10.1007/s12098-007-0175-y. PMID 17978456. Archived from the original on June 10, 2008.
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mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanentneonataldiabetes, and hyperinsulinemia of infancy". Human Mutation...
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S2CID 23520352. Jones CW (September 2001). "Gestational diabetes and its impact on the neonate". Neonatal Network. 20 (6): 17–23. doi:10.1891/0730-0832.20.6...
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Encoding the ATP-Sensitive Potassium-Channel Subunit Kir6.2 and PermanentNeonatalDiabetes" (PDF). New England Journal of Medicine. 350 (18): 1838–1849...
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PMID 12124776. S2CID 11530928. GeneReviews/NCBI/NIH/UW entry on PermanentNeonatalDiabetes Mellitus PDX1+protein,+human at the U.S. National Library of...
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