Cori disease
| Classification according to ICD-10 | |
|---|---|
| E74.0 | Glycogen storage disease [glycogenosis] Cori disease |
| ICD-10 online (WHO version 2019) | |
The Cori's disease (also Forbes disease , Crohn's Cori , Type III glycogen storage disease or amylo-1,6-glucosidase deficiency ) is an autosomal - recessive inherited disease that Glykogenhaushalt impaired and after 1953 by Barbara Illingworth , Forbes , Carl and Gerty Cori was discovered and described. Coris disease is caused by a mutation at locus 1p21.2.
Glycogen is a type of sugar, a highly branched polymer that is predominant in the liver and muscles as an energy store. In Cori disease, it can no longer be processed correctly. A defective enzyme, the glycogen debranching enzyme , can no longer break down the branches of the glycogen. The consequences are:
- Hypoglycemia in the embryonic stage, as the disease is genetically predisposed - but the hypoglycemia often only manifests itself at the age of three to four months, when breast feeding is stopped
- inhibited growth
- usually an enlarged liver
- later the muscles are also affected ( hypotension , heart muscle diseases)
The liver begins to normalize as soon as the patient becomes an adult; but few of those affected develop cirrhosis of the liver in adulthood. The liver symptoms can be so mild that the disease is only recognized by the neuromuscular symptoms in adulthood.
Treatment consists of a special diet. Patients should avoid prolonged fasts and frequent smaller meals, while limiting the amount of simple sugars and other rapidly absorbable carbohydrates per meal. Uncooked corn starch plays an important role in nutritional therapy , as it is digested particularly slowly and thus the blood sugar level can be supported for several hours. A very protein-rich diet is indicated, if necessary with protein supplementation , as gluconeogenesis can convert amino acids into glucose .
frequency
- In the US and Europe, 1 patient per 83,000 to 100,000 newborns
- North American Inuit and Sephardic Jews of North African descent approx. 1: 5000 (marriage often within one's own subpopulation, which promotes homozygosity of pathogenic alleles )
- Faroe Islands: approx. 1: 3600 ( founder effect or genetic bottleneck )
Web links
literature
- ↑ A. Dagli, CP Sentner, DA Weinstein: Glycogen Storage Disease Type III . In: GeneReviews . University of Washington, Seattle, Seattle (WA) December 29, 2016, PMID 20301788 ( nih.gov [accessed January 19, 2018]).
