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familial hyperinsulinemic hypoglycemia; persistent hyperinsulinemic hypoglycemia of infancy (PHHI); congenital hyperinsulinism
1st 'experiment of nature' linking impaired fatty acid oxidation to hyperinsulinism.
Epidemiology:
- type 1 is the most common cause of persistent hypoglycemia in infancy
Pathology:
1) inappropriately elevated insulin secretion
2) defective negative feedback regulation of insulin secretion by low glucose levels
3) nesidioblastosis
Genetics:
- associated with defects in ABCC8 gene {type 1}
- associated with defects in KCNJ11 gene {type 2}
- associated with defects in HADHSC gene {type 4}
- associated with defects in insulin receptor (INSR) {type 5}
Laboratory:
- serum glucose (low)
- serum insulin (high)
- KCNJ11 gene mutation (type 2)
Complications:
- brain damage from recurrent episodes of hypoglycemia
Management:
1) early & aggressive intervention
2) responds to treatment with diaxozide
Related
nesidioblastosis
General
lipid metabolism, inborn error; lipid storage disease; lipidosis
hypoglycemia
Database Correlations
OMIM correlations
References
OMIM :accession 609975