Genome-Wide Homozygosity Analysis Reveals HADH Mutations as a Common Cause of Diazoxide-Responsive Hyperinsulinemic-Hypoglycemia in Consanguineous Pedigrees

Author:

Flanagan Sarah E.1,Patch Ann-Marie1,Locke Jonathan M.1,Akcay Teoman2,Simsek Enver3,Alaei Mohammadreza4,Yekta Zeinab4,Desai Meena5,Kapoor Ritika R.6,Hussain Khalid6,Ellard Sian1

Affiliation:

1. Institute of Biomedical and Clinical Science (S.E.F., A.-M.P., J.M.L., S.E.), Peninsula Medical School, University of Exeter, Exeter EX2 5DW, United Kingdom;

2. Sisli Etfal Educational and Research Hospital, Department of Pediatric Endocrinology (T.A.), Sisli, 34377 Istanbul, Turkey;

3. Osmangazi University School of Medicine, Department of Paediatrics, Division of Paediatric Endocrinology (E.S.), 26480 Eskisehir, Turkey;

4. Mofid Children's Hospital (M.A., Z.Y.) Shahid Beheshti University of Medical Sciences, Tehran, 15468-155514 Iran;

5. Sir Hurkisondas Nurrotumdas Hospital and Research Center (M.D.), Mumbai 400 004, India

6. London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children, National Health Service Trust, and the Institute of Child Health (R.R.K., K.H.), University College London, London WC1E 6BT, United Kingdom;

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference17 articles.

1. Hyperinsulinaemic hypoglycaemia.;Kapoor;Arch Dis Child,2009

2. Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene.;Stanley;N Engl J Med,1998

3. Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells.;Otonkoski;Am J Hum Genet,2007

4. Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion.;Clayton;J Clin Invest,2001

5. Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation.;Molven;Diabetes,2004

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