permanent neonatal diabetes mellitus


Also found in: Acronyms.

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.

Molecular pathology
Caused by defects in INS that prevent normal folding and progression of proinsulin in the insulin secretory pathway.
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.
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