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Congenital Hyperinsulinism due to mutations in HNF4A and HADH

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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.

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Authors and Affiliations

  1. Clinical and Molecular Genetics Unit, The Developmental Endocrinology Research Group, Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, UK

    Ritika R. Kapoor, Amanda Heslegrave & Khalid Hussain

  2. Great Ormond Street Hospital for Children NHS Trust, London, UK

    Ritika R. Kapoor, Amanda Heslegrave & Khalid Hussain

Authors
  1. Ritika R. Kapoor
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  2. Amanda Heslegrave
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  3. Khalid Hussain
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Correspondence to Khalid Hussain.

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Kapoor, R.R., Heslegrave, A. & Hussain, K. Congenital Hyperinsulinism due to mutations in HNF4A and HADH . Rev Endocr Metab Disord 11, 185–191 (2010). https://doi.org/10.1007/s11154-010-9148-y

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