SE-ATLAS

Mapping of Health Care Providers
for People with Rare Diseases

Glykogenose Deutschland e.V.

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Description of patient organisation

Glykogenose Deutschland e. V. (500 Mitglieder) vertritt die Interessen Glykogenose-Betroffener und ihrer Familien. Glykogenosen sind angeborene Speicherkrankheiten, gekennzeichnet durch einen abnormen Gehalt an Glykogen im Körpergewebe. Glykogen ist ein wesentlicher Energielieferant des Organismus. Bekannt sind 14 Glykogenose-Typen, die sich in Krankheitsbild und Therapie voneinander unterscheiden (Leber-, Muskel- und Mischformen). Zur Zeit vertritt der Verein vier Krankheitsgruppen. Typ I (von Gierke), ist eine Leberform. Für Typ II (Morbus Pompe; lysosomale Muskelglykogenose) existiert seit 2006 eine Enzymersatztherapie. Die drittstärkste Gruppe, Typ V (Morbus McArdle), ist ebenfalls eine Muskelglykogenose. Die Ketotische Gruppe umfaßt Patienten mit Typ 0,  III (Cori), VI und IX (Leber- und einige Mischformen).

Der Verein bietet Erfahrungsaustausch mit anderen Betroffenen und Angehörigen, Informationsmaterial für Betroffene/Eltern, medizinisches Fachpersonal, Physiotherapeuten und Pädagogen; Vereinszeitschrift Glykopost, Internetforen, soziale Medien; krankheitsspezifische Fortbildungen; Fachtagungen mit Referenten aus Medizin und Forschung - national und international; Kooperation mit Medizinern und Wissenschaftlern; Unterstützung von Forschungsprojekten, Beteiligung an klinischen Studien; Beratung in sozialen Belangen und Vermittlung von Rechtsberatung.

Care provisions

This support group organisation offers the following
  • Participation in registries
  • Social / legal advice
  • Regular meetings
  • Newsletter / Association journal
Special offers
Moderierte Facebook-Gruppen für alle Gruppen und für den Verein insgesamt
Youtube-Kanal

Contact

06136 9149911
shg@glykogenose.de
Website

http://www.glykogenose.de

Address

Post Office Box Am Römerweg 33e
55270 Essenheim

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Mentioned facilities 6

Preview of the represented diseases 1

Glycogen storage disease due to aldolase A deficiency Glycogen storage disease due to hepatic glycogen synthase deficiency Glycogen storage disease Glycogen storage disease due to lactate dehydrogenase deficiency Glycogen storage disease due to muscle beta-enolase deficiency Glycogen storage disease due to phosphorylase kinase deficiency Glycogen storage disease due to muscle phosphofructokinase deficiency Glycogen storage disease due to acid maltase deficiency, infantile onset Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia Glycogen storage disease due to glycogen synthase deficiency Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form Glycogen storage disease due to liver phosphorylase kinase deficiency Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Glycogen storage disease due to phosphoglucomutase deficiency Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form Glycogen storage disease due to muscle phosphorylase kinase deficiency Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Glycogen storage disease due to phosphoglycerate mutase deficiency Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib Glycogen storage disease due to muscle and heart glycogen synthase deficiency Glycogen storage disease due to LAMP-2 deficiency Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form Fanconi-Bickel syndrome Glycogen storage disease due to glucose-6-phosphatase deficiency Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form Glycogen storage disease due to acid maltase deficiency Glycogen storage disease due to glycogen debranching enzyme deficiency Glycogen storage disease due to glycogen branching enzyme deficiency Glycogen storage disease due to muscle glycogen phosphorylase deficiency Glycogen storage disease due to liver glycogen phosphorylase deficiency Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
8.15204322338104449.92828494758012Glykogenose Deutschland e.V.
Last updated: 23.10.2023