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Monogenic Hyperinsulinemic Hypoglycemia Disorders

Editor(s): Stanley C.A. (Philadelphia, Pa.) 
De León D.D. (Philadelphia, Pa.) 
Cover

The Molecular Genetics and Pathophysiology of Congenital Hyperinsulinism Caused by Short-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

Molven A.a,b · Helgeland G.a,c · Sandal T.a,b · Njølstad P.R.c,d

Author affiliations

aThe Gade Institute and Departments of bPathology, cClinical Medicine and dPediactrics, Haukeland University Hospital, University of Bergen, Bergen, Norway

Related Articles for ""

Stanley CA, De León DD (eds): Monogenic Hyperinsulinemic Hypoglycemia Disorders. Front Diabetes. Basel, Karger, 2012, vol 21, pp 137-145

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Article / Publication Details

First-Page Preview
Abstract of Paper

Published online: February 14, 2012
Cover Date: 2012

Number of Print Pages: 9
Number of Figures: 3
Number of Tables: 1

ISBN: 978-3-8055-9943-6 (Print)
eISBN: 978-3-8055-9944-3 (Online)

Abstract

Deficiency of the metabolic enzyme short-chain 3-hydroxyacyl-CoA (SCHAD) is a rare autosomal recessive form of congenital hyperinsulinism of infancy caused by mutations in the HADH gene on chromosome 4q. Most cases reported to date are from ethnicities where consanguineous marriages are relatively frequent. SCHAD-deficient patients have normal or slightly elevated birth weights. Hypoglycemia most often manifests within the first 6 months of life and is diazoxide-sensitive. Although SCHAD participates in the degradation of fatty acids, the patients usually do not present a clinical picture that would suggest a fatty acid oxidation disorder. Metabolic profiling may, however, reveal an increased level of 3-hydroxybutyryl-carnitine in blood and the presence of 3-hydroxyglutaric acid in urine. Recently, it was demonstrated that SCHAD serves to inhibit the activity of glutamate dehydrogenase in the pancreatic beta-cells, a finding that also explains why SCHAD-deficient patients tend to be protein-intolerant.

© 2012 S. Karger AG, Basel


Article / Publication Details

First-Page Preview
Abstract of Paper

Published online: February 14, 2012
Cover Date: 2012

Number of Print Pages: 9
Number of Figures: 3
Number of Tables: 1

ISBN: 978-3-8055-9943-6 (Print)
eISBN: 978-3-8055-9944-3 (Online)


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Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
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