Glycogen storage disease
| Classification according to ICD-10 | |
|---|---|
| E74.0 | Glycogen storage disease (glycogenosis) |
| ICD-10 online (WHO version 2019) | |
The glycogen storage diseases (English glycogen storage diseases , GSDs), also known as glycogen storage diseases called (Greek word part γλυκός for "sweet") are a heterogeneous group of congenital enzyme defects . With an incidence of 1: 25,000 to 1: 20,000, they are among the rare metabolic diseases . Both the synthesis and the breakdown of glycogen (and thus glucose homeostasis) can be affected, depending on which enzyme is affected, but also transport proteins with compensatory glycogen formation (see type XI). Normally or pathologically structured glycogen can accumulate in the liver , heart , skeletal muscles and central nervous system . Even the lack of glycogen formation (type 0) is attributed to storage diseases.
While the liver's glycogen stores are important for maintaining a constant blood sugar level, glycogen in the muscles is used for the energy metabolism there ( glycogenolysis ). The classification takes place in the chronological order of the first description with Roman numerals, alternatively the name of the first description is used. Depending on which metabolic intermediate product accumulates, a distinction is sometimes made between very different clinical pictures.
A common symptom is an enlarged liver.
Overview
| Type | Enzyme defect | Proper name |
|---|---|---|
| I. | Ia: glucose-6-phosphatase Ib, Ic, Id: glucose-6-phosphate translocase |
Von Gierke's disease |
| II | Lysosomal α-1,4-glucosidase | Pompe disease |
| IIb | Glycogenosis due to LAMP-2 deficiency (genetic defect) | Danon's disease |
| III | Glycogen Debranching Enzyme | Cori disease |
| IV | 1,4-α-glucan branching enzyme | Andersen's disease |
| V | Muscle glycogen phosphorylase | McArdle's disease |
| VI | Liver glycogen phosphorylase | Hers disease |
| VII | Muscle phosphofructokinase | Tarui disease |
| IX | Phosphorylase kinase (liver and / or muscle) | Glycogenosis type IX |
| XI | GLUT-2 defect | Fanconi-Bickel syndrome |
| 0 | UDP glycogen synthase |
See also
literature
- Margaret A. Chen, David A. Weinstein: Glycogen storage diseases: Diagnosis, treatment and outcome. In: Translational Science of Rare Diseases. Volume 1, number 1, 2016, pp. 45–72, doi : 10.3233 / trd-160006 (free full text).
- MM Adeva-Andany, M. González-Lucán, C. Donapetry-García, C. Fernández-Fernández, E. Ameneiros-Rodríguez: Glycogen metabolism in humans. In: BBA clinical. Volume 5, June 2016, pp. 85-100, doi : 10.1016 / j.bbacli.2016.02.001 , PMID 27051594 , PMC 4802397 (free full text).
Individual evidence
- ↑ Hans Adolf Kühn: Diseases of the liver. In: Ludwig Heilmeyer (ed.): Textbook of internal medicine. Springer-Verlag, Berlin / Göttingen / Heidelberg 1955; 2nd edition ibid. 1961, pp. 847-875, here: p. 871 ( liver changes in storage diseases ) and 1118 f. ( The glycogen storage disease (v. Gierkesche Glykogenose). )
