Abstract
Mutations in the HADH and HNF4A genes are rare causes of diazoxide responsive congenital hyperinsulinism (CHI). This chapter details the phenotype known to be associated with mutations in these genes. Additionally, the authors give a brief overview of the role of these genes in glucose physiology and the possible mechanisms of CHI in patients with mutations in these genes.
MeSH terms
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3-Hydroxyacyl CoA Dehydrogenases / genetics*
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3-Hydroxyacyl CoA Dehydrogenases / metabolism
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3-Hydroxyacyl CoA Dehydrogenases / physiology
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Congenital Hyperinsulinism / genetics*
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Congenital Hyperinsulinism / metabolism
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Hepatocyte Nuclear Factor 4 / genetics*
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Hepatocyte Nuclear Factor 4 / metabolism
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Hepatocyte Nuclear Factor 4 / physiology
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Humans
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Infant, Newborn
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Insulin-Secreting Cells / metabolism
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Models, Biological
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Mutation* / physiology
Substances
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HNF4A protein, human
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Hepatocyte Nuclear Factor 4
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3-Hydroxyacyl CoA Dehydrogenases