Article
An autosomal dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy, not linked to the sulfonylurea receptor locus.
The Journal of clinical endocrinology and metabolism - 1 Apr 1997
Kukuvitis A, Deal C, Arbour L, Polychronakos C
Abstract excerpt
Persistent hyperinsulinemic hypoglycemia of infancy (PHHI), a rare disorder due to defective negative feedback regulation of insulin secretion by low glucose levels, is often familial. Most cases are recessively inherited, and mutations of the sulfonylurea receptor gene (SUR) or the closely linke...
Topics
- ATP-Binding Cassette Transporters
- Aged
- Alleles
- Chromosome Mapping
- Female
- Genes, Dominant
- Genetic Linkage
- Genotype
- Humans
- Hyperinsulinism
- Hypoglycemia
- Infant
- Infant, Newborn
- Male
- Pedigree
- Potassium Channels
- Potassium Channels, Inwardly Rectifying
- Receptors, Drug