Diabetes Mellitus, Permanent Neonatal [Supplementary Concept]
A rare autosomal dominant genetically heterogeneous hereditary form of diabetes mellitus which is distinct from Type I diabetes mellitus and affected individuals present with insulin-requiring hyperglycemia within the first 3 months of life. About 50% of cases resolve by 3 months but may later develop type II diabetes. The cases that do not resolve develop permanent insulin-dependent diabetes and many also have neurologic and morphologic abnormalities. Mutations in the GCK, KCNJ11, ABCC8, and INS genes have been identified. OMIM: 606176
Date introduced: November 5, 2012
MeSH Unique ID: C563425
Heading Mapped to:
Entry Terms:
- Permanent Neonatal Diabetes Mellitus
- Diabetes Mellitus, Permanent, of Infancy