familial hyperinsulinemic hypoglycemia; persistent hyperinsulinemic hypoglycemia of infancy (PHHI); congenital hyperinsulinism

Introduction

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

• inappropriately elevated insulin secretion
• defective negative feedback regulation of insulin secretion by low glucose levels
• 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

• early & aggressive intervention
• responds to treatment with diaxozide

More general terms

• lipid metabolism, inborn error; lipid storage disease; lipidosis
• hypoglycemia

Additional terms

• nesidioblastosis

Database

• OMIM: https://mirror.omim.org/entry/609975
• OMIM: https://mirror.omim.org/entry/609968
• OMIM: https://mirror.omim.org/entry/256450
• OMIM: https://mirror.omim.org/entry/601820