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Idiopathic Ketotic Hypoglycemia

MedGen UID:
1384261
•Concept ID:
C4330472
•
Disease or Syndrome

Definition

Ketotic hypoglycemia that usually occurs in young, thin children in association with infection or fasting, and which typically resolves by age 6-8 years. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIdiopathic Ketotic Hypoglycemia

Professional guidelines

PubMed

Recognition, assessment and management of hypoglycaemia in childhood.
Ghosh A, Banerjee I, Morris AAM
Arch Dis Child 2016 Jun;101(6):575-580. Epub 2015 Dec 30 doi: 10.1136/archdischild-2015-308337. PMID: 26718813

Recent clinical studies

Etiology

Clinical and Genetic Characteristics of Congenital Hyperinsulinism in Norway: A Nationwide Cohort Study.
Velde CD, Molnes J, Berland S, Njølstad PR, Molven A
J Clin Endocrinol Metab 2025 Jan 21;110(2):554-563. doi: 10.1210/clinem/dgae459. PMID: 38963811Free PMC Article
Continuous glucose monitoring metrics in people with liver glycogen storage disease and idiopathic ketotic hypoglycemia: A single-center, retrospective, observational study.
Overduin RJ, Venema A, Lubout CMA, Fokkert-Wilts MJ, De Boer F, Schreuder AB, Rossi A, Derks TGJ
Mol Genet Metab 2024 Sep-Oct;143(1-2):108573. Epub 2024 Aug 30 doi: 10.1016/j.ymgme.2024.108573. PMID: 39243574
Clustering of Hypoglycemia Events in Patients With Hyperinsulinism: Extension of the Digital Phenotype Through Retrospective Data Analysis.
Worth C, Harper S, Salomon-Estebanez M, O'Shea E, Nutter PW, Dunne MJ, Banerjee I
J Med Internet Res 2021 Oct 29;23(10):e26957. doi: 10.2196/26957. PMID: 34435596Free PMC Article
A Sensitive Plasma Insulin Immunoassay to Establish the Diagnosis of Congenital Hyperinsulinism.
Siersbæk J, Larsen AR, Nybo M, Christesen HT
Front Endocrinol (Lausanne) 2020;11:614993. Epub 2021 Feb 19 doi: 10.3389/fendo.2020.614993. PMID: 33679602Free PMC Article
Presenting features of idiopathic ketotic hypoglycemia.
Daly LP, Osterhoudt KC, Weinzimer SA
J Emerg Med 2003 Jul;25(1):39-43. doi: 10.1016/s0736-4679(03)00100-8. PMID: 12865107

Diagnosis

Clinical and Genetic Characteristics of Congenital Hyperinsulinism in Norway: A Nationwide Cohort Study.
Velde CD, Molnes J, Berland S, Njølstad PR, Molven A
J Clin Endocrinol Metab 2025 Jan 21;110(2):554-563. doi: 10.1210/clinem/dgae459. PMID: 38963811Free PMC Article
Continuous glucose monitoring metrics in people with liver glycogen storage disease and idiopathic ketotic hypoglycemia: A single-center, retrospective, observational study.
Overduin RJ, Venema A, Lubout CMA, Fokkert-Wilts MJ, De Boer F, Schreuder AB, Rossi A, Derks TGJ
Mol Genet Metab 2024 Sep-Oct;143(1-2):108573. Epub 2024 Aug 30 doi: 10.1016/j.ymgme.2024.108573. PMID: 39243574
Towards enhanced understanding of idiopathic ketotic hypoglycemia: a literature review and introduction of the patient organization, Ketotic Hypoglycemia International.
Drachmann D, Hoffmann E, Carrigg A, Davis-Yates B, Weaver V, Thornton P, Weinstein DA, Petersen JS, Shah P, Christesen HT
Orphanet J Rare Dis 2021 Apr 13;16(1):173. doi: 10.1186/s13023-021-01797-2. PMID: 33849624Free PMC Article
Recurrent hypoglycemia in a toddler.
Cohen M, Zwiebel S, Jeanmonod R
Am J Emerg Med 2015 Dec;33(12):1847.e3-4. Epub 2015 May 1 doi: 10.1016/j.ajem.2015.04.074. PMID: 25983272
Hyperketotic states due to inherited defects of ketolysis.
Saudubray JM, Specola N, Middleton B, Lombes A, Bonnefont JP, Jakobs C, Vassault A, Charpentier C, Day R
Enzyme 1987;38(1-4):80-90. doi: 10.1159/000469194. PMID: 2894307

Therapy

Fasting and fat-loading tests provide pathophysiological insight into short-chain acyl-coenzyme a dehydrogenase deficiency.
van Maldegem BT, Duran M, Wanders RJ, Waterham HR, de Koning TJ, Rubio E, Wijburg FA
J Pediatr 2010 Jan;156(1):121-7. doi: 10.1016/j.jpeds.2009.07.008. PMID: 19800078

Prognosis

Clustering of Hypoglycemia Events in Patients With Hyperinsulinism: Extension of the Digital Phenotype Through Retrospective Data Analysis.
Worth C, Harper S, Salomon-Estebanez M, O'Shea E, Nutter PW, Dunne MJ, Banerjee I
J Med Internet Res 2021 Oct 29;23(10):e26957. doi: 10.2196/26957. PMID: 34435596Free PMC Article
Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children.
Brown LM, Corrado MM, van der Ende RM, Derks TG, Chen MA, Siegel S, Hoyt K, Correia CE, Lumpkin C, Flanagan TB, Carreras CT, Weinstein DA
J Inherit Metab Dis 2015 May;38(3):489-93. Epub 2014 Jul 29 doi: 10.1007/s10545-014-9744-1. PMID: 25070466
Presenting features of idiopathic ketotic hypoglycemia.
Daly LP, Osterhoudt KC, Weinzimer SA
J Emerg Med 2003 Jul;25(1):39-43. doi: 10.1016/s0736-4679(03)00100-8. PMID: 12865107
Neonatal hypoglycemia 30 years later: does it injure the brain? Historical summary and present challenges.
Cornblath M
Acta Paediatr Jpn 1997 Apr;39 Suppl 1:S7-11. PMID: 9200872

Clinical prediction guides

Continuous glucose monitoring metrics in people with liver glycogen storage disease and idiopathic ketotic hypoglycemia: A single-center, retrospective, observational study.
Overduin RJ, Venema A, Lubout CMA, Fokkert-Wilts MJ, De Boer F, Schreuder AB, Rossi A, Derks TGJ
Mol Genet Metab 2024 Sep-Oct;143(1-2):108573. Epub 2024 Aug 30 doi: 10.1016/j.ymgme.2024.108573. PMID: 39243574
Clustering of Hypoglycemia Events in Patients With Hyperinsulinism: Extension of the Digital Phenotype Through Retrospective Data Analysis.
Worth C, Harper S, Salomon-Estebanez M, O'Shea E, Nutter PW, Dunne MJ, Banerjee I
J Med Internet Res 2021 Oct 29;23(10):e26957. doi: 10.2196/26957. PMID: 34435596Free PMC Article
Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children.
Brown LM, Corrado MM, van der Ende RM, Derks TG, Chen MA, Siegel S, Hoyt K, Correia CE, Lumpkin C, Flanagan TB, Carreras CT, Weinstein DA
J Inherit Metab Dis 2015 May;38(3):489-93. Epub 2014 Jul 29 doi: 10.1007/s10545-014-9744-1. PMID: 25070466

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