METAGENE is designed to support the diagnosis of inborn errors of metabolism in a practical approach. Together with our patient database RAMEDIS (www.ramedis.de) it is the basis of an expert system. METAGENE gives rapid access to comprehensive information about 428 metabolic diseases, important differential diagnoses, associated clinical and laboratory findings and recent publications. It is designed for health professionals dealing with rare metabolic disorders to support their every day work in diagnosing or treating patients with these disorders. It is regularly updated and new tools are added.
In the most recent new development we improved the “expert” search function, where clinical, general and special laboratory findings can easy be combined.
In addition we added a tool for facilitating treatment of patients with phenylketonuria/ hyperphenylalaninemia who may be responsive to tetrahydrobiopterine (BH4). Knowing the genotype one can get rapid information if patients with this genotype may be BH4 responsive. Information is based on published cases in the literature or on patients documented in our database RAMEDIS. In these cases an automatic link will be established.
We appreciate any comments or contribution.
Georg Frauendienst-Egger, M.D., Friedrich Trefz, M.D..
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