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PMID: 10685979 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

Genetics of neonatal hyperinsulinism.

Archives of disease in childhood. Fetal and neonatal edition ·Vol. 82 ·No. 2 ·2000-03-00 ·Pages F79-86

Glaser B, Thornton P, Otonkoski T, Junien C

Abstract

Congenital hyperinsulinism (HI) is a clinically and genetically heterogeneous entity. The clinical heterogeneity is manifested by severity ranging from extremely severe, life threatening disease to very mild clinical symptoms, which may even be difficult to identify. Furthermore, clinical responsiveness to medical and surgical management is extremely variable. Recent discoveries have begun to clarify the molecular aetiology of this disease and thus the mechanisms responsible for this clinical heterogeneity are becoming more clear. Mutations in 4 different genes have been identified in patients with this clinical syndrome. Most cases are caused by mutations in either of the 2 subunits of the beta cell ATP sensitive K(+) channel (K(ATP)), whereas others are caused by mutations in the beta cell enzymes glucokinase and glutamate dehydrogenase. However, for as many as 50% of the cases, no genetic aetiology has yet been determined. The study of the genetics of this disease has provided important new information about beta cell physiology. Although the clinical ramifications of these findings are still limited, in some situations genetic studies might greatly aid in patient management.

MeSH Terms
B-Lymphocytes/chemistry Genotype Glucokinase Glutamate Dehydrogenase/genetics Humans Hyperinsulinism/congenital,genetics Infant Infant, Newborn Insulin/metabolism Insulin Secretion Mutation/genetics Phenotype Potassium Channels/genetics,metabolism Terminology as Topic
Chemicals
Insulin Potassium Channels Glutamate Dehydrogenase Glucokinase
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Glaser B
Department of Endocrinology and Metabolism, The Hebrew University, Hadassah Medical School, Jerusalem, 91120, Israel. [email protected]
Thornton P
Otonkoski T
Junien C
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Article Info
Journal
Archives of disease in childhood. Fetal and neonatal edition
Abbr.
Arch Dis Child Fetal Neonatal Ed
ISSN
1359-2998
DOI
10.1136/fn.82.2.f79
Email
[email protected]
Published
2000-03-00
Pages
F79-86
Language
English
Region
England
NLM ID
9501297
PMCID
PMC1721059
Subset
IM
External Links
PubMed source DOI: 10.1136/fn.82.2.f79 PMC Full Text View journal details
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