Deutschsprachige Selbsthilfegruppe für Alkaptonurie e.V. (DSAKU)
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Description of patient organisation
Alkaptonuria (AKU) is a rare autosomal recessive hereditary disease of the protein metabolism. As a consequence, the intermediate metabolite homogentisic acid (HGA) accumulates to more than 2000-fold. However, HGA oxidises to benzoquinone acetic acid (BQA) and this causes darkening of the urine when exposed to the air. At early adulthood BQA also oxidises and polymerises to yield the ochronotic pigment that tends to deposit in connective tissue such as cartilage of the intervertebral discs (± 30 years), joints (± 40), ear (30 - 40 years), sclera of the eye (30 - 40 years), tendons and ligaments as well as muscles (± 40 years), kidneys (± 50 years), prostrate (± 50 years) and cardiac valve (± 60 years). Ochronotic pigmentation results in blackening of the cartilage and its degradation, thereby causing symptoms similar to early-onset osteoarthritis, that is very painful and progresses very rapidly. At the moment there is no cure against AKU available and treatment is presently only symptomatic such as pain management, physio- and occupational therapy, joint- and cardiac valve replacement as well as removal of kidney-/prostate-stones. Due to its prevalence of 4-10 : 1 million AKU is considered as an ultra-rare disease.
The " Deutschsprachige Selbsthilfegruppe für Alkaptonurie (DSAKU) e.V. was founded in February 2012 and is active nationally. The main tasks of the DSAKU e.V. is to supply information for early diagnosis and improved medical health care, to promote social interaction between patients and their relatives and to offer help in disease management. As to to achieve their objectives, the DSAKU e.V. offers annual meetings and patient-seminars, a homepage as well as counselling. The DSAKU e.V. designed two flyers with information for patients and medical experts, respectively, as well as a German translation of the 'AKU-Severity score index (AKUSSI). Recently, the DSAKU e.V. also has a section on AKU-info in Arabic on their homepage under (http://www.dsaku.de/hilfe-bei-alkaptonurie/aku-info-auf-arabisch/).
The " Deutschsprachige Selbsthilfegruppe für Alkaptonurie (DSAKU) e.V. was founded in February 2012 and is active nationally. The main tasks of the DSAKU e.V. is to supply information for early diagnosis and improved medical health care, to promote social interaction between patients and their relatives and to offer help in disease management. As to to achieve their objectives, the DSAKU e.V. offers annual meetings and patient-seminars, a homepage as well as counselling. The DSAKU e.V. designed two flyers with information for patients and medical experts, respectively, as well as a German translation of the 'AKU-Severity score index (AKUSSI). Recently, the DSAKU e.V. also has a section on AKU-info in Arabic on their homepage under (http://www.dsaku.de/hilfe-bei-alkaptonurie/aku-info-auf-arabisch/).
Care provisions
This support group organisation offers the following
- Social / legal advice
- Internal forum
- Regular meetings
- Newsletter / Association journal
Preview of the represented diseases 1
7.06453326112312951.17131895Deutschsprachige Selbsthilfegruppe für Alkaptonurie e.V. (DSAKU)
Last updated:
19.10.2023