Permanent neonatal diabetes mellitus | definition of permanent neonatal diabetes mellitus by Medical dictionary
permanent neonatal diabetes mellitus
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permanent neonatal diabetes mellitus An autosomal dominant condition (OMIM:176730) characterised by insulin-requiring hyperglycaemia diagnosed shortly after birth and the need for lifelong insulin therapy.
Caused by defects in INS that prevent normal folding and progression of proinsulin in the insulin secretory pathway.
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References in periodicals archive
Sulfonylurea treatment outweighs insulin therapy in short term metabolic control of patients with permanent neonatal diabetes mellitus
due to activating mutations of the KCNJ11 (KIR6.2) gene.
Permanent neonatal diabetes mellitus
due to C96Y heterozygous mutation in the insulin gene.
During the study, the team used animal and cellular models to focus on a gene mutation linked with permanent neonatal diabetes mellitus