2024
16th April 2024
Annual Meeting 2024
Inborn Errors of Metabolism – Medical Treatment by Internists
Organized by: ASIM in cooperation with DGIM (German Society for Internal Medicine)
Location: Wiesbaden, Germany
Agenda ASIM-Symposium 2024
Current Issues
Publication of new guideline „hepatorenal tyrosinemia“ by AWMF
We are pleased to announce that the new guideline on hepatorenal tyrosinemia has now been published by the AWMF (working group of scientific and medical societies) at https://register.awmf.org/de/leitlinien/detail/027-003. With this, another guideline on a very important metabolic disease has been published in cooperation with the ASIM. Children with this disorder, which has been successfully tested for in newborn screening for several years, often reach adulthood thanks to early therapy with Nitisinone and are then looked after and guided by experts for metabolic disorders. In the new guideline, the special challenges of adulthood are dealt with in a decidedly state-of-the-art scientific manner.
Prof. Dr. med. M. Merkel, ASIM 1st Chairman
Prof. Dr. med. S. vom Dahl, ASIM Treasurer
ASIM Press Release in honour of Rare Disease Day: „A long way ahead of us“
ASIM issues statement to BMG (German Federal Department of Health) – ASIM supports DIG PKU’s initiative to alter §116 b SGB V: term „children“ must be changed to „patients“
SGB V § 116b addresses the outpatient health care by medically specialized consultants.
No. 2 specifies rare diseases and conditions with correspondingly few numbers of cases that form part of this paragraph.
Listed below j) is: Medical specialist care for children with inborn errors of metabolism
In conjunction with other registered medical associations such as the APS, the ASIM claims a modification of this paragraph. Inborn errors of metabolism do subsist for a lifetime. Especially to adults suffering from these diseases no adequate medical treatment is rendered in Germany. The limitation to children needs to be abolished in this paragraph!
Infection Risks with COVID-19 in Inborn Errors of Metabolism – Recommendations
2021
Düsseldorfer PKU-Day 2021 for Adults
26th June 2021 Online-Seminar
Organized by: Department for Inborn Errors of Metabolism in Adults
Department for Gastroenterology, Hepatology und Infectiology
University Hospital Düsseldorf
https://phenylcetonurie.org/WordPress3/wp-content/uploads/2021/07/Flyer-PKU-Ddorf.pdf
Rare Diseases „The Rare within the Frequent“ Online-Lecture
22th September 2021
Organized by: Charité – Universitätsmedizin Berlin
Department for Endocrinology und Metabolic Medicine
Programm ONLINE-FB_seltene-Erkrankungen_4s_09-2021
Please note: prospectively held online – possibly with attendance, depending on pandemic situation
Please check this website for updates: https://seltene-erkrankungen.charite.de
Inborn Errors of Metabolism: Symptoms, Diagnostics, Therapy
10th September 2021 held as Online-Training Programme
Organized by: Deutsche Gesellschaft für Humangenetik e. V. (German Association of Human Genetics)
https://www.syndromtag.de/index.html
https://www.syndromtag.de/de/programm.html
https://www.syndromtag.de/de/allgemeine-hinweise/anmeldung.html
https://ememberline.de/dgfh-muenchen/AHG/va_anmeldung.php?kursid=2055
ASIM Councils
Expert-Network Promotes Advancement in Quality of Medical Care
ASIM Initiates Regular Exchange Between Experts in Inborn Errors of Metabolism
„Not only patients and their family members benefit from the mutual exchange of views and experiences. In order to meet the need for regular exchange on clinical issues in the care of adult patients, the Association for the Study of Inborn Errors of Metabolism (ASIM) has extablished telephone conferences for physicians, dieticians and other experts in inborn errors of metabolism.
These “ASIM Councils” will prospectively be held two to four times a year. ASIM experts can discuss any clinical questions and problems. These may relate to diagnostics, treatment or ethical questions including specific anonymized individual cases.
As a result of the need-based exchange of information, these councils may make an essential and immediate contribution to improving the quality of medical care for adult patients. Not only physicians who have previously had little experience with patients suffering from in born errors of metabolism benefit from the knowledge of their experienced colleagues. Concomitantly, the ASIM gains an overview of the most important questions and treatment aspects, conducive for further continuing medical education and research projects….“ 1
1 published in the magazine PHEline by the Association DIG PKU (German Interest Group Phenylketonuria and Related Inborn Errors of Metabolism e.V.)
Further informationen on ASIM-Councils can be found under the heading: ASIM-Councils
Press Release: Rare Diseases – UKD-Physician Prof. Dr. Stephan vom Dahl receives German Cross of Merit
Commitment for „Orphan Diseases“: Düsseldorfer Outpatient Clinics for Inborn Errors of Metabolism in Adults is one of the Largest Medical Centres in Germany
Press Release, 14th February 2018
Prof. Dr. Stephan vom Dahl mit dem Bundesverdienstkreuz. In der Ambulanz für angeborene Stoffwechselkrankheiten bei Erwachsenen am UKD werden jährlich über 450 Patientinnen und Patienten betreut. Die Ambulanz war eine der ersten ihrer Art in Deutschland. Foto: UKD/Kesting
Düsseldorf (ukd/dre). As an expert in rare metabolic diseases, he cares for patients from all over Germany at the University Hospital Düsseldorf (UKD). However, his volunteer work for patients suffering from rare diseases goes far beyond that: at the end of January, UKD physician Prof. Dr. med. Stephan vom Dahl received the Cross of Merit on the ribbon of the Order of Merit of the Federal Republic of Germany.
Prof. Dr. Stephan vom Dahl works as a senior physician at the Department of Gastroenterology, Hepatology and Infectiology of the UKD (clinic director: Prof. Dr. Dieter Häussinger). More than 450 patients are taken care of each year at the Clinic for Rare Metabolic Diseases in Adults. The outpatient department was one of the first of its kind in Germany. „Our work for these patients is also an important pillar of the Centre for Rare Diseases at the UKD.“ In this clinic-wide centre, experts from different disciplines work closely together, for example, from Department of Human Genetics or the Children’s Clinic of the UKD.
Currently, around 6,000 different diseases are counted among the rare diseases. Overall, it is estimated that up to eight percent of the population is affected by a rare disease. Prof. von Dahl: „Rare diseases are therefore quite a common diagnosis in its entirety. However, because of the rarity and complexity of each disease, many people, and especially their loved ones, often have to go a long way before a medical professional makes an accurate diagnosis and they can benefit from adequate treatment.“
For Prof. vom Dahl, close and often long-term cooperation with patients and their relatives is important: „Of course, it can take a long time to find a solution to a complex problem. But if you have found this solution and the therapy works: This is an enormous and rapid improvement for the lives of patients and their relatives.“ In the light of these facts, Prof. Dahl volunteers in numerous patient associations, such as the Gaucher Society Germany , the Hemochromatosis Association Germany e. V. (HVD) and the Liver League e.V. based in Düsseldorf.“ He is also editor of the scientific book „Inborn Errors of Metabolism in Adults“.
Together with his colleagues, „Transition Consultation-Hours“ for young patients are offered, who were previously taken care of by pediatricians, but have now reached adulthood. „So we can closely accompany the transition from pediatric medicine to adult medicine. This is especially important for the patients and their families, since they have often been cared for by ‚their‘ doctor for a large part of their lives and now have to establish a new relationship of trust.“ The need for specialized outpatient clinics is high: „Our outpatient clinic for inborn metabolic diseases in adults is one of the largest of its kind in Germany. But even here patients have to wait around six months for an appointment.“
Having been awarded the Federal Order of Merit, Prof. vom Dahl likes to think of it as additional motivation for his work in the clinic, but also for his volunteer work outside the clinic. Clinic director Prof. Dr. Dieter Häussinger agrees: „The award for Prof. Dahl is a great recognition for the work with the patients, who often have a long odyssey behind them, until they meet the right expert. And even then, the work is often arduous, requires patience and enormous expertise. I am very glad that this commitment has now been acknowledged in this form.“
Kontakt:
Prof. Dr. med. Stephan vom Dahl
Senior Physician
Department of Gastroenterology, Hepatology and Infectiology
(Clinic director: Prof. Dr. Dieter Häussinger)
University Hospital Düsseldorf
Senior Physician Office: +49- (0)211 / 81-04041
stephan.vomdahl@med.uni-duesseldorf.de
ASIM appreciates the longer-term funding of the NAMSE office
Petition of the DIG PKU for the establishment of specialized medical outpatient clinics also for adults with rare metabolic disorders rejected
Adults with inborn errors of metabolism continue to have no legal claim to specialist medical care – § 116 b paragraph 2 of SGB V remains unchanged. The ASIM will continue to remain politically active in order to repeal this unfounded and absurd restriction in §116.
Press Release of the DIG PKU concerning TSVG
In a query addressed to politicians, the DIG PKU demands the warranty of an adequate care for patients with inborn errors of metabolism
