| Mutations in pancreatic ß-cell Glucokinase as a cause of hyperinsulinaemic hypoglycaemia and neonatal diabetes mellitus. | |
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MedLine Citation:
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PMID: 20878480 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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Glucokinase is a key enzyme involved in regulating insulin secretion from the pancreatic ß-cell. The unique role of glucokinase in human glucose physiology is illustrated by the fact that genetic mutations in glucokinase can either cause hyperglycaemia or hypoglycaemia. Heterozygous inactivating mutations in glucokinase cause maturity-onset diabetes of the young (MODY), homozygous inactivating in glucokinase mutations result in permanent neonatal diabetes whereas heterozygous activating glucokinase mutations cause hyperinsulinaemic hypoglycaemia. |
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Authors:
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Khalid Hussain |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Reviews in endocrine & metabolic disorders Volume: 11 ISSN: 1573-2606 ISO Abbreviation: Rev Endocr Metab Disord Publication Date: 2010 Sep |
Date Detail:
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Created Date: 2010-11-08 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 100940588 Medline TA: Rev Endocr Metab Disord Country: United States |
Other Details:
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Languages: eng Pagination: 179-83 Citation Subset: IM |
Affiliation:
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Clinical and Molecular Genetics Unit, The Developmental Endocrinology Research Group, Institute of Child Health, Hospital for Children NHS Trust, University College London, Great Ormond Street, London, UK. K.Hussain@ich.ucl.ac.uk |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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