Metab-L is an electronic mailing list on inborn errors of metabolism (IEM) that has acquired notability among specialists in that field of medicine, especially from the area of pediatrics.
The non-commercial, international, English-language list is a basis of specialist exchange and cooperation with an emphasis on promoting an "IEM community". The list is restricted to medical professionals and scientists involved in metabolic diseases.[citation needed]
Metab-L threads cover a broad range of topics including workshop information, project discussion, address exchanges, laboratory assays, scientific literature, job opportunities and technical questions with an important focus on clinical topics - discussion and shared evidence of intriguing and rare cases, general treatment of certain disorders of metabolism and general diagnostic principles.[citation needed]
Short History
editMetab-L was started in August 1995 by a clinical pediatrician, Dr. med. Christian Renner, then Erlangen, now Deggendorf, Germany, at a time when the idea of using the Internet for a direct and group-based information exchange among medical specialists in a very small field of medical science, distributed all over the world, was still something innovative and unusual for the prospected membership.[citation needed]
Based on his very own needs and difficulties in contacting diagnostic and clinical specialists and discussing with them his own cases where rare metabolic disorders were assumed or had to be treated Renner romantically spent long nightly hours manually searching through treasured paper address lists and notes, some of them hand written and handed-down, wilted and arcane, to send unsolicited snail mail to colleagues and metabolic specialists distributed all over the world inviting them to join in (bolstering the endeavour by posting announcements of Metab-L[1] to Usenet newsgroups). The main impetus - and a main achievement - of the mailing list was to overcome a certain degree of till then almost unavoidable professional isolation encountered in the face of extremely low prevalences and patient numbers in certain inborn metabolic diseases, by means of computer-mediated, group- and community-focused communication.[citation needed]
Technically Metab-L has been based on mailing list software running on servers of the KNF[2] computer club. Being non-commercial and "open-source-like", generous, unconditional and long-term financial support by two metabolics-interested companies, Milupa GmbH, Germany, now Nutricia Metabolics, Nutricia GmbH Germany,[3] (ongoing) and Orphan Europe Germany[4] (until October 2013) were essential and helpful almost from the very beginning.
Notability and impact
editDespite its homemade basis, rustic origin and initially one-man approach, metabolic professionals from all over the world quickly joined in the project. Metab-L soon became and today is a major and acknowledged instrument for specialists in the "Inborn Error Community" worldwide.[citation needed]
Though simple in idea and technical design - and low in traffic volume (about 1 to 10 postings a day) - it has become quite a unique phenomenon in the area of Inborn Errors of Metabolism: By December 2017 (in its 23rd year) Metab-L had a subscription base of over 1700 subscribers worldwide, which is still growing on an almost daily basis. Although of initially European-German origin, Metab-L members today come mainly from the US and the UK with growing participation by scientists from all parts of the world. Inborn error of metabolism specialists taking part in Metab-L are mostly clinicians/ pediatricians or coming from a biochemical and laboratory professional or geneticist background. A great portion of members of the most important metabolic scientific societies, SSIEM[5] and SIMD,[6] regularly participate in Metab-L discussions. The renowned Journal of Inherited Metabolic Disease[7] now explicitly publishes[8] "summaries of contributions e.g. to the metabolic Email list metab-l" and in other places, as well, Metab-L is regularly cited in scientific literature: Example articles with Metab-L citation.[9][10][11]
The mailing list archives - accessible for members via a WWW-interface- reflect scientific and clinical discussion and developments with regard to inborn errors of metabolism since August 1995.[citation needed]
References
edit- ^ "Metab-l for Professionals in Inborn Errors of Metabolism only". groups.google.com.
- ^ "Home | KNF". www.franken.de.
- ^ "Nutricia Metabolics: Home". www.nutricia-metabolics.de.
- ^ "Orphan Europe". Recordati Rare Diseases.
- ^ "SSIEM - HOME". www.ssiem.org.
- ^ "SIMD – Society for Inherited Metabolic Disorders". simd.org.
- ^ "Journal of Inherited Metabolic Disease | Volumes and issues". SpringerLink. November 30, 2018.
- ^ JIMD author instructions, see opinions
- ^ Mardach, Rebecca; Verity, M. Anthony; Cederbaum, Stephen D. (2005). "Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy" (PDF). Molecular Genetics and Metabolism. 85 (4): 286–290. doi:10.1016/j.ymgme.2005.04.004. PMID 15939644. Archived from the original (PDF) on 2007-09-28. Retrieved 2007-01-22.
- ^ Walter, J. H. (2003). "L-Carnitine in inborn errors of metabolism: What is the evidence?". Journal of Inherited Metabolic Disease. 26 (2–3): 181–188. doi:10.1023/A:1024485117095. PMID 12889659.
- ^ Renner C, Connor WE, Steiner RD (2016). "Sitosterolemia Presenting as Pseudohomozygous Familial Hypercholesterolemia". Clin Med Res. 14 (2): 103–8. doi:10.3121/cmr.2016.1294. PMC 5321287. PMID 27231115.