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Table 1 Causes to ketotic hypoglycemia in children

From: Towards enhanced understanding of idiopathic ketotic hypoglycemia: a literature review and introduction of the patient organization, Ketotic Hypoglycemia International

  Gene or chromosome Inheritance
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
  1. AD autosomal dominant, AR autosomal recessive, N/D no data, PEP phosphoenolpyruvate, G-6P glucose 6-phosphate. The list is not fully inclusive
  2. *Suggested, not well-established causes to KH
  3. **Several mechanisms, rare other mechanisms, or unknown
  4. ***Paternal deletion, maternal uniparental disomy, or imprinting defect