Table 1 Summary of the known causes of hyperinsulinaemic hypoglycaemia (HH)
Causes of HHReferences
Congenital hyperinsulinism (mode of inheritance)
ABCC8 (autosomal recessive and dominant)27 29–33
KCNJ11 (autosomal recessive and dominant)28 33 34
GLUD1 (dominant)21
GCK (dominant)35–38
HADH (recessive)23 39 40
HNF4A (dominant)41 42 45
SLC16A1 (exercise induced) (dominant)43
Secondary to (usually transient)
Maternal diabetes mellitus (gestational and insulin dependent) IUGR5–7
Perinatal asphyxia5 7
Rhesus isoimmunisation70
Metabolic conditions
Congenital disorders of glycosylation, type 1a/b/d71–73
Tyrosinaemia type I74
Associated with syndromes
Beckwith–Wiedemann7 8
Soto75
Kabuki76
Usher77
Timothy78
Costello79
Trisomy 1380
Mosaic Turner81
Central hypoventilation syndrome82
Other causes
Dumping syndrome9
Insulinoma (sporadic or associated with multiple endocrine neoplasia syndrome type 1)14
Insulin gene receptor mutations10
Factitious HH (Munchausen by proxy)15
  • ABCC8, ATP-binding cassette, sub-family C, member 8 gene; GCK, glucokinase gene; GLUD1, glutamate dehydrogenase gene; HADH, hydroxyacyl-coenzyme A dehydrogenase gene; HNF4A, hepatocyte nuclear factor 4 alpha gene; IUGR, intrauterine growth restriction; KCNJ11, potassium inwardly rectifying channel, sub-family J, member 11 gene; SLC16A1, solute carrier family 16, member 1 gene.