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References OMIM Gene GeneReviews HGMD HGNC
last update : 28/08/07
Symbol HHF7
Location 1p13.2
Name hyperinsulinemic hypoglycemia, familial, 7
Other name(s) Exercise-induced hyperinsulinism
Corresponding gene SLC16A1
Other symbol(s) EIHI
Main clinical features
  • hypoglycemic disorder characterized by inappropriate insulin secretion during anaerobic exercise or on pyruvate load
  • Genetic determination autosomal dominant
    Function/system disorder metabolism/carbohydrates
    Type disease
    Remark(s) silencing of the expression of a cell-membrane transporter (MCT1) in a specific cell type (pancreatic cells) leads to an inappropriate physiological response in patients