| Hyperinsulinism |
Congenital Hyperinsulinism |
[18,19] |
| Deficiency of counter regulatory hormones |
Congenital hypopituitarism
ACTH deficiency
Isolated GH deficiency
Congenital glucagon deficiency
Cortisol deficiency
Congenital Adrenal hyperplasia
Adrenal Hypoplasia Congenita
Familial Glucocorticoid deficiency
Dopamine β-hydroxylase deficiency |
[22-24]
[25-27]
[28]
[29]
[30,31]
[32-36]
[37]
[38]
[39,40] |
| Disorders of hepatic glycogen synthesis and release |
GSD I – Von Gierke Disease
GSD type III
GSD VI (Hers Disease)
GSD IX b, c
GSD 0 |
[42,43]
[44,45]
[46]
[48,49]
[51] |
| Disorders of fructose metabolism |
Hereditary Fructose intolerance |
[53] |
| Disorders of gluconeogenesis |
Fructose-1, 6-bisphosphatase deficiency
Phosphoenolpyruvate carboxykinase deficiency (PEPCK)
Pyruvate carboxylase deficiency |
[55]
[57,58]
[60] |
| Disorders of galactose metabolism |
Galactosaemia |
[62-64] |
| Hereditary Defects in Amino Acid Metabolism |
Maple Syrup Urine Disease
Propionic acidaemia
Methylmalonic acidaemia
Tyrosinaemia |
[66,67]
[69]
[68,70]
[72] |
| Hereditary Defects in Fatty Acid Metabolism |
Defects in β-oxidation
MCAD deficiency
LCHAD deficiency
SCHAD deficiency |
[75]
[76]
[78] |
| Disorders of Carnitine Metabolism |
Primary Carnitine deficiency
(CPT- I) deficiency
CACT deficiency
(CPT-II) deficiency |
[80]
[82]
[83]
[84,85] |
| Disorders of mitochondrial metabolism |
ETF deficiency / ETFDH deficiency |
[86] |
| Disorders of Ketone body synthesis and utilisation |
HMG Co A synthase deficiency
HMG Co A lyase deficiency
β-ketothiolase deficiency
SCOT deficiency |
[89]
[90]
[92]
[94,95] |
| Syndromes Associated with Hypoglycaemia |
Beckwith-Wiedemann Syndrome (BWS)
Laron syndrome
Glucocorticoid Resistance syndrome
Leprechaunism
Rabson-Mendenhall syndrome
Sotos syndrome
Timothy syndrome |
[96]
[98]
[99]
[100]
[100]
[104]
[105] |
| Miscellaneous disorders |
Defects in Citrin metabolism
Activating AKT2 mutations |
[108]
[110] |
