Conditions / Genetic
permanent neonatal diabetes mellitus
info · Genetic
A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene.
Signs and symptoms
- Small for gestational age
- Intrauterine growth retardation
- Type I diabetes mellitus
- Diabetes mellitus
- Decreased circulating C-peptide concentration
- Hyperglycemia
- Elevated hemoglobin A1c
Also known as: PDMI; PNDM; permanent diabetes mellitus of infancy