|
Hormonal
| | |
|
Growth hormone deficiency, or resistance
|
Genetic or acquired
|
Variable
|
|
ACTH deficiency or resistance; cortisol deficiency
|
Genetic or acquired
|
Variable
|
|
Glucagon deficiency*
|
GCG, DBH
|
N/D
|
|
Dopamine beta-hydroxylase deficiency*
|
GCG, DBH
|
N/D
|
|
Metabolic
| | |
|
Glycogen storage disease (GSD)
| | |
|
GSD 0; glycogen synthase deficiency
|
GYS2
|
AR
|
|
GSD III; glycogen debranching enzyme deficiency
|
AGL
|
AR
|
|
GSD VI; glycogen phosphorylase deficiency
|
PYGL
|
AR
|
|
GSD IX; phosphorylase kinase subunit deficiencies
|
PHKA2, PHKB, PHKG2
|
X-linked, AR
|
|
Glucose metabolism and transport
| | |
|
Phosphoglucomutase I deficiency
|
PMG1
|
AR
|
|
Pyruvate carboxylase deficiency
|
PC
|
AR
|
|
Organic acidemias
| | |
|
Maple syrup urine disease, propionic aciduria, methylmalonic aciduria
|
Multiple genes
|
AR
|
|
Ketone body transport and metabolism
| | |
|
Monocarboxylase transporter 1 defect
|
SLC16A1 (MCT1)
|
AR,AD
|
|
Ketolysis
| | |
|
Succinyl CoA oxoacid transferase deficiency
|
SCOT
|
AR
|
|
Mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase) deficiency
|
ACAT1
|
AR
|
|
Syndromes
| | |
|
Silver–Russel syndrome
|
11p15 or 7**
|
Mostly sporadic
|
|
Prader–Willi syndrome
|
15q11-q13***
|
Mostly sporadic
|
|
Fanconi–Bickel syndrome
|
SLC2A2 (GLUT2)
|
AR
|
|
Secondary KH to chronic malnutrition, severe malaria, other chronic diseases
|
-
|
-
|
|
Idiopathic ketotic hypoglycemia
| | |
|
Physiological KH in prolonged fasting or acute illness
|
-
|
-
|
|
Pathological KH
|
-
|
-
|
|
IGF2BP1 deficiency*
|
IGF2BP1
|
N/D
|
|
Sodium glucose co-transporter 2 defect*
|
SLC5A2
|
N/D
|
|
PEP carboxykinase 1 and G-6P catalytic transcriptional induction*
|
NCOR1
|
N/D
|
|
Mitosis gene A-related kinase 11 defect*
|
NEK11
|
N/D
|
