Frage

    Glykogenspeicherkrankheit Typ 1 (Von-Gierke-Krankheit)

    Die Glykogenspeicherkrankheit Typ 1, auch bekannt als Glykogenose Typ 1 oder Von-Gierke-Krankheit, ist die häufigste Erkrankung aus der Gruppe der Glykogenspeicherkrankheiten.

    Diese Krankheit betrifft den folgenden Prozess: Stoffwechsel.

    Symptome

    Leber, Galle & Pankreas
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  • Systemisch
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  • neurologic
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  • respiratorisch
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  • gastro-intestinal
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  • muskuloskeletal
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  • kardiovaskulär
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  • urogenital
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  • Diagnostik

    Pathologie

    Biopsie
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  • Testresultate

    Sonstige Untersuchungsergebnisse
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  • Labor

    Serum
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  • Bildgebung

    Röntgen
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  • Therapie

    Prognose

    Komplikationen

    Glykogenspeicherkrankheit Typ 1
    • Die Glykogenspeicherkrankheit Typ 1, auch bekannt als Glykogenose Typ 1 oder Von-Gierke-Krankheit, ist die häufigste Erkrankung aus der Gruppe der Glykogenspeicherkrankheiten.[symptoma.com]
    Hypoglykämie
    • Die ersten Anzeichen der Erkrankung entwickeln sich kurz nach der Geburt und werden durch Hypoglykämie und Laktatazidose verursacht.[symptoma.com]
    Laktatazidose
    • Die ersten Anzeichen der Erkrankung entwickeln sich kurz nach der Geburt und werden durch Hypoglykämie und Laktatazidose verursacht.[symptoma.com]
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  • Ätiologie

    Epidemiologie

    Geschlechtsverteilung
    Altersverteilung

    Pathophysiologie

    Prävention

    Zusammenfassung

    Die Glykogenspeicherkrankheit Typ 1 ist eine autosomal-rezessiv vererbre Stoffwechselerkrankung, die durch mangelnde Glucose-6-phosphatase-Aktivität, welche mit einer Glykogenspeicherung in Leber und Niere einhergeht, gekennzeichnet ist.

    Die Erkrankung wurde 1929 von dem deutschen Pathologen Edgar von Gierke erstmals beschrieben.

    Die ersten Anzeichen der Erkrankung entwickeln sich kurz nach der Geburt und werden durch Hypoglykämie und Laktatazidose verursacht. Krämpfe sind ebenso ein Leitsymptom der Krankheit.

    Häufig treten auch Symptome, die durch milde Hypoglykämie verursacht werden, wie Reizbarkeit, Blässe, Zyanose, Hypotonie, Zittern oder Bewusstseinsverlus auf.

    Patientenhinweise

    Selbsttest

    Quellen

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    • AAV vector-mediated reversal of hypoglycemia in canine and murine glycogen storage disease type Ia - DD Koeberl, C Pinto, B Sun, S Li, DM Kozink - Molecular , 2008 - nature.com
    • Human granulocyte colony-stimulating factor therapy for patients with neutropenia and/or neutrophil dysfunction secondary to glycogen storage disease type 1b - S Calderwood, L Kilpatrick, SD Douglas - , 2001 - bloodjournal.hematologylibrary.org
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    • A diagnostic algorithm for metabolic myopathies - A Berardo, S DiMauro, M Hirano - Current neurology and neuroscience , 2010 - Springer
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    • ACC/AHA/HRS 2006 Key Data Elements and Definitions for - EDP Malenka, MJ Radford, RF Redberg - heartj.com
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    • Association of glycogen storage disease 1b and Crohn disease: results of a North American survey - BK Dieckgraefe, JR Korzenik, A Husain - European journal of , 2002 - Springer
    • Association of sickle cell anemia and glycogen storage disease type 1a. - AA Al-Dabbagh, FM Sayes - Saudi Med J, 2004 - ipac.kacst.edu.sa
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    • Acknowledgments: The authors thank Dr Sanjay Oak, Director of Medical Education & Health for granting permission to publish this paper and Dr Chitra Prasad, - CR Scriver, AL Beaudet, WS Sly, D Valle - medind.nic.in
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    • Human granulocyte colony-stimulating factor therapy for patients with neutropenia and/or neutrophil dysfunction secondary to glycogen storage disease type 1b - S Calderwood, L Kilpatrick, SD Douglas - , 2001 - bloodjournal.hematologylibrary.org
    • Cardiac involvement in glycogen storage disease type III - SW Moses, KL Wanderman, A Myroz - European journal of , 1989 - Springer
    • A new variant of glycogen storage disease type I probably due to a defect in the glucose-6-phosphate transport system - K Narisawa, Y Igarashi, H Otomo, K Tada - Biochemical and Biophysical , 1978 - Elsevier
    • Human granulocyte colony-stimulating factor therapy for patients with neutropenia and/or neutrophil dysfunction secondary to glycogen storage disease type 1b - S Calderwood, L Kilpatrick, SD Douglas - , 2001 - bloodjournal.hematologylibrary.org
    • Blood lipids and endothelial function in glycogen storage disease type III - E Hershkovitz, A Donald, M Mullen, PJ Lee - metabolic disease, 1999 - Springer
    • Amelioration of proximal renal tubular dysfunction in type I glycogen storage disease with dietary therapy - YT Chen, JI Scheinman, HK Park - England Journal of , 1990 - Mass Medical Soc
    • A juvenile variant of glycogenosis IV (Andersen disease) - AS Guerra, OP Diggelen, F Carneiro, RM Tsou - European journal of , 1986 - Springer
    • Glucose-6-phosphate transport in human neutrophils results in apoptosis: a potential explanation for neutrophil dysfunction in glycogen storage disease type 1b - R Leuzzi, G Bánhegyi, T Kardon - , 2003 - bloodjournal.hematologylibrary.org
    • AAV vector-mediated reversal of hypoglycemia in canine and murine glycogen storage disease type Ia - DD Koeberl, C Pinto, B Sun, S Li, DM Kozink - Molecular , 2008 - nature.com
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    • Aberrant splicing in adult onset glycogen storage disease type II (GSDII): Molecular identification of an IVS1 (–13T→ G) mutation in a majority of patients and a novel - ML Hule, AS Chen, S Tsujino, S Shanske - Human molecular , 1994 - Oxford Univ Press
    • Brief report: treatment of chronic inflammatory bowel disease in glycogen storage disease type Ib with colony-stimulating factors - TF Roe, TD Coates, DW Thomas - New England Journal , 1992 - Mass Medical Soc
    • Oligomers as microbicides that inhibit human immunodeficiency virus type 1 (HIV-1) infection and block Toll-like receptor 7 (TLR7) and TLR9 triggering by HIV-1 - JA Fraietta, YM Mueller, DH Do - Antimicrobial agents , 2010 - Am Soc Microbiol
    • Cardiovascular magnetic resonance in cardiac amyloidosis - AM Maceira, J Joshi, SK Prasad, JC Moon, E Perugini - Circulation, 2005 - Am Heart Assoc
    • Adult myopathy from glycogen storage disease due to acid maltase deficiency - P HUDGSON, D GARDNER-MEDWIN, M Worsfold - Brain, 1968 - Oxford Univ Press
    • A molecular link between the common phenotypes of type 1 glycogen storage disease and HNF1α-null mice - H Hiraiwa, CJ Pan, B Lin, TE Akiyama - Journal of Biological , 2001 - ASBMB
    • Abnormal Sweat Electrolytes in a Case of Celiac Disease and a Case of Psychosocial Failure to Thrive Review of Other Reported Causes - RM Ruddy, TF Scanlin - Clinical pediatrics, 1987 - cpj.sagepub.com
    • A glucose-6-phosphate hydrolase, widely expressed outside the liver, can explain age-dependent resolution of hypoglycemia in glycogen storage disease type Ia - JJ Shieh, CJ Pan, BC Mansfield, JY Chou - Journal of Biological Chemistry, 2003 - ASBMB
    • Human granulocyte colony-stimulating factor therapy for patients with neutropenia and/or neutrophil dysfunction secondary to glycogen storage disease type 1b - S Calderwood, L Kilpatrick, SD Douglas - , 2001 - bloodjournal.hematologylibrary.org
    • Gene into fibroblasts, myoblasts and myotubes from patients with glycogen storage disease type II leads to high level expression of enzyme and corrects glycogen - MP Nicolino, JP Puech, EJ Kremer - Human molecular , 1998 - Oxford Univ Press
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    • Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease - A McConkie-Rosell, C Wilson, DA Piccoli - metabolic disease, 1996 - Springer

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