Causes of HH | References |
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) IUGR | 5–7 |
Perinatal asphyxia | 5 7 |
Rhesus isoimmunisation | 70 |
Metabolic conditions | |
Congenital disorders of glycosylation, type 1a/b/d | 71–73 |
Tyrosinaemia type I | 74 |
Associated with syndromes | |
Beckwith–Wiedemann | 7 8 |
Soto | 75 |
Kabuki | 76 |
Usher | 77 |
Timothy | 78 |
Costello | 79 |
Trisomy 13 | 80 |
Mosaic Turner | 81 |
Central hypoventilation syndrome | 82 |
Other causes | |
Dumping syndrome | 9 |
Insulinoma (sporadic or associated with multiple endocrine neoplasia syndrome type 1) | 14 |
Insulin gene receptor mutations | 10 |
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.