Von Gierke disease

This article or section needs to be revised. Details should be given on the talk page. Please help to improve it , and then remove this flag.

Classification according to ICD-10
E74.0	Glycogen storage disease (glycogenosis) Von Gierke disease
ICD-10 online (WHO version 2019)

As Glycogen Storage Disease Type I , also glycogen storage disease type I (GSD1) or glycogen storage disease type I and older from Gierkesche glycogen storage disease , is the most common disease from the group of glycogen storage diseases called. The disease was first described in 1929 by the pathologist Edgar von Gierke (1877-1945). Form 1A is based on a defect in the enzyme glucose-6-phosphatase , which plays a central role in the release of glucose, especially from the liver, and thus in the body's energy metabolism . There is an accumulation of glucose-6-phosphate in the hepatocytes and the proximal tubular cells . The result is excessive glycogen synthesis. One reason for this is the allosteric activation of phosphoprotein phosphatase-1 by glucose-6-phosphate, which inhibits glycogen breakdown and promotes synthesis. The disease is inherited in an autosomal recessive manner. With a frequency ( incidence ) of one disease per 100,000 births, the disease is rare. Forms 1B, 1C and 1D are caused by a defect in the glucose-6-phosphate translocase , a transport protein which, in particular, brings about the transport of G6P into the endoplasmic reticulum.

clinic

The disease manifests itself in the infant with hypoglycaemia and acidosis as a result of the impaired glucose release due to the enzyme defect. The impaired glucose release also leads to increased glycogen deposition in the liver, which is associated with enlargement of the liver ( hepatomegaly ). Muscle weakness and growth retardation are common. However, there is no increased glycogen storage in the muscles (as in Pompe disease and McArdle disease ).

Diagnosis

The condition results in low blood glucose levels that do not necessarily become symptomatic. Compensatory excessive activation of lipolysis leads to hyperlipidemia . Furthermore, the uric acid level in the blood is increased ( hyperuricemia ). After the administration of glucose, an increase in blood glucose level and a decrease in the level of lactate in the blood are observed. The suspected diagnosis can be confirmed by a molecular genetic examination of the glucose-6-phosphatase gene G6PC . A liver biopsy is therefore no longer necessary.

therapy

The treatment should take place in a pediatric metabolism center, whereby the children and their parents must be informed about medical and nutritional principles as well as emergency measures. An emergency ID must be issued. The aim of the therapy is the safe avoidance of hypoglycaemia and the stabilization of the metabolic situation. During the day, this can be achieved through frequent, small, carbohydrate-rich meals; at night, continuous, permanent probing with dextrin solution or starch is necessary. If this therapy is started in good time, normal body growth can be achieved and chronic organ complications can be avoided.

Individual evidence

1. ↑ E. von Gierke: Hepato-nephromegalia glykogenica (glycogen storage disease of the liver and kidneys). In: Contributions to pathological anatomy and general pathology. Jena 1929, 82, pp. 497-513.
2. ↑ D. Melis include: Genotype / phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature . In: Eur J Pediatr. 2005 Aug; 164 (8), pp. 501-508. Epub 2005 May 19. PMID 15906092
3. ↑ UniProt O43826
4. ↑ AWMF guidelines for paediatrics and adolescent medicine: Glycogen storage diseases of the liver No. 027/015 ( full text ( Memento from May 12, 2007 in the Internet Archive ))

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !