Hers disease
| Classification according to ICD-10 | |
|---|---|
| E74.0 | Glycogen storage disease (glycogenosis) - Hers disease |
| ICD-10 online (WHO version 2019) | |
The Glycogen storage disease type VI , ( dt. Hers disease ), glycogen storage disease type VI , belongs to the group of the glycogen storage diseases and is an autosomal - recessive inherited metabolic disease . The cause is an enzyme defect in liver phosphorylase .
The disease is named after Henri-Géry Hers .
Disturbances in the activator enzyme phosphorylase kinase in the liver and / or muscles are called glycogenosis type IX according to the more recent nomenclature .
Clinic and course
The disease, which manifests itself throughout childhood, is characterized by a mild course compared to other types of glycogenosis . The main symptoms are hepatomegaly and growth retardation , as well as hypotonia . Mild to moderate ketotic hypoglycaemia can occur but, like hepatomegaly, often regresses with increasing age. But adults can z. B. in connection with alcohol consumption , as well as during pregnancy , become symptomatic.
For some de novo mutations (e.g. G233D), residual enzyme activities could be detected, with milder ketosis , slightly elevated transaminases , cholesterol and triglycerides .
diagnosis
The detection of reduced enzyme activity in the liver (phosphorylase) or the molecular genetic detection of a gene mutation secure the diagnosis in conjunction with the clinical findings.
therapy
In the majority of patients with type VI glycogenosis, purely symptomatic therapy with prevention of the hypoglycemic phases is sufficient with an overall good prognosis of the disease. In more severe cases, the corresponding metabolic disorders must be balanced and organ dysfunctions compensated.
Despite the generally mild course, structured therapy is recommended as this can improve growth, strength and endurance as well as blood values. Patients should avoid prolonged fasts and frequent smaller meals, while limiting the amount of simple sugars and easily absorbable carbohydrates per meal. By taking uncooked corn starch, which is digested very slowly, as well as a protein-rich diet, possibly with protein supplementation , the blood sugar level can be stabilized and numerous complications can be avoided.
Individual evidence
- ↑ a b c Margaret A. Chen, David A. Weinstein: Glycogen storage diseases: Diagnosis, treatment and outcome . In: Translational Science of Rare Diseases . tape 1 , no. 1 , January 1, 2016, ISSN 2214-6490 , p. 45-72 , doi : 10.3233 / trd-160006 ( medra.org [accessed April 30, 2017]).
- ↑ NLS Tang, J. Huib, E. Youngc, V. Worthingtonc, K.-F. Tod, K.-L. Cheungb, C.-K. Lib, T.-F. Fok: A novel mutation (G233D) in the glycogen phosphorylase gene in a patient with hepatic glycogen storage disease and residual enzyme activity. In: Mol Genet Metab. 2003 Jun; 79 (2), pp. 142-145. PMID 12809646
