Zusammenfassung
Beim kongenitalen Hyperinsulinismus handelt es sich um eine Gruppe von Krankheiten, deren Gemeinsamkeit rezidivierende hyperinsulinämische Hypoglykämien sind. Ursächlich können verschiedene genetische Defekte sein. Der kongenitale Hyperinsulinismus kommt in einer transienten Form vor mit einer spontanen Remission meist in den ersten Lebensmonaten oder als persistierende Form mit einer Hypoglykämieneigung, die Jahre oder lebenslang anhält.
This is a preview of subscription content, log in via an institution to check access.
Notes
- 1.
Umrechnung: mg/dl×0,05551=mmol/l.
Literatur
Beltrand J, Caquard M, Arnoux JB et al (2012) Glucose metabolism in 105 children and adolescents after pancreatectomy for congenital hyperinsulinism. Diabetes Care 35:198–203
Berrry GT, Walter JH (2012) Disorders of galactose metabolism. In: Fernandes J, Saudubray JM, van den Berghe G, Walter JH (Hrsg) Inborn metabolic diseases, 4. Aufl. Springer, Heidelberg, S 141–150
Bosch AM (2011) Classic galactosemia: Dietary dilemmas. J Inherit Metab Dis 34:257–260
Bosch AM, Grootenhuis MA, Bakker HD, Heijmans HS, Wijburg FA, Last BF (2004) Living with classical galactosemia: Health-related quality of life consequences. Pediatrics 113:e423–e428
Bouteldja N, Timson DJ (2010) The biochemical basis of hereditary fructose intolerance. J Inherit Metab Dis 33:105–112
Gibson PR, Newnham E, Barrett JS, Shepherd SJ, Muir JG (2007) Review article: fructose malabsorption and the bigger picture. Aliment Pharmacol Ther 25:349–363
González-Barroso MM, Giurgea I, Bouillaud F et al (2008) Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion. PLoS One 3:e3850
Holton JB, Walter JH, Tyfield LA (2001) Galactosemia. In: Sciver C, Baudet A, Sly W et al (Hrsg) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, S 1553–1587
Huidekoper HH, Visser G, Ackermans MT, Sauerwein HP, Wijburg FA (2010) A potential role for muscle in glucose homeostasis: In vivo kinetic studies in glycogen storage disease type 1a and fructose-1,6-bisphosphatase deficiency. J Inherit Metab Dis 33:25–31
James C, Kapoor RR, Ismail D, Hussain K (2009) The genetic basis of congenital hyperinsulinism. J Med Genet 46:289–299
Jumbo-Lucioni PP, Garber K, Kiel J et al (2012) Diversity of approaches to classic galactosemia around the world: A comparison of diagnosis, intervention, and outcomes. J Inherit Metab Dis 35:1037–1049
Kapoor RR, Locke J, Colclough K et al (2008) Persistent hyperinsulinemic hypoglycaemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations. Diabetes 57:1659–1663
Lee YC, Huang HY, Chang CJ, Cheng CH, Chen YT (2010) Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: Mechanistic insight into arterial tortuosity syndrome. Hum Mol Genet 19:3721–3733
Leen WG, Klepper J, Verbeek MM et al (2010) Glucose transporter-1 deficiency syndrome: The expanding clinical and genetic spectrum of a treatable disorder. Brain 133:655–670
Otonkoski T, Jiao H, Kaminen-Ahola N, Tapia-Paez I et al (2007) Physical exercise-induced hypoglycaemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells. Am J Hum Genet 81:467–474
Rahier J, Guiot Y, Sempoux C (2002) Persistent hyperinsulinaemic hypoglycaemia of infancy: A heterogenous syndrome unrelated to nesidioblastosis. Arch Dis Child Fetal Neonatal Ed 82:F108–F112
Rodeck B, Santer R, Muschol N (2013) Stoffwechselerkrankungen. In: Rodeck B, Zimmer K-P (Hrsg) Pädiatrische Gastroenterologie, Hepatologie und Ernährung, 2. Aufl. Springer, Berlin/Heidelberg
Santer R, Calado J (2010) Familial renal glucosuria and SGLT2: From a mendelian trait to a therapeutic target. Clin J Am Soc Nephrol 5:133–141
Santer R, Klepper J (2012) Disorders of glucose transport. In: Fernandes J, Saudubray JM, van den Berghe G, Walter JH (Hrsg) Inborn metabolic diseases, 4. Aufl. Springer, Berlin, S 141–150
Santer R, Steinmann B, Schaub J (2002) Fanconi-Bickel syndrome – A congenital defect of facilitative glucose transport. Curr Mol Med 2:213–227
Santer R, Rischewski J, von Weihe M et al (2005) The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. Hum Mutat 25:594
Stanley C, Leon D. Hrsg. (2012) Monogenic hyperinsulinemic hypoglycemia disorder, Bd 21, Front diabetes. Karger, Basel
Steinmann B, Santer R (2012) Disorders of fructose metabolism. In: Fernandes J, Saudubray JM, van den Berghe G, Walter JH (Hrsg) Inborn metabolic diseases, 4. Aufl. Springer, Berlin, S 101–112
Verkarre V, Fournet JC, de Lonlay P et al (1998) Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. J Clin Invest 102:1286–1291
Waisbren SE, Potter NL, Gordon CM et al (2012) The adult galactosemic phenotype. J Inherit Metab Dis 35:279–286
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2015 Springer-Verlag Berlin Heidelberg
About this entry
Cite this entry
Meissner, T., Santer, R. (2015). Genetische Defekte des Monosaccharidstoffwechsels. In: Hoffmann, G., Lentze, M., Spranger, J., Zepp, F. (eds) Pädiatrie. Springer Reference Medizin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-54671-6_73-1
Download citation
DOI: https://doi.org/10.1007/978-3-642-54671-6_73-1
Received:
Accepted:
Published:
Publisher Name: Springer, Berlin, Heidelberg
Online ISBN: 978-3-642-54671-6
eBook Packages: Springer Referenz Medizin
Publish with us
Chapter history
-
Latest
Genetische Defekte des Monosaccharidstoffwechsels- Published:
- 15 May 2019
DOI: https://doi.org/10.1007/978-3-642-54671-6_73-2
-
Original
Genetische Defekte des Monosaccharidstoffwechsels- Published:
- 07 July 2015
DOI: https://doi.org/10.1007/978-3-642-54671-6_73-1