Table 1 Causes to ketotic hypoglycemia in children

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