Multimedia Review

Metagene (Software for Inborn Errors of Metabolism). Authors: Frauendienst-Egger. G and Trefz. FK Wissenchaftliche Verlag-sgessellschaft mbH, Birkenwaldstr. 44, D-70191 Stuttgart, Germany, 1998, Price DM 990 + VAT; Updates (biannually approximately) DM 100 + VAT.

The varied clinical presentations of inborn errors of metabolism (IEM) owing to their genetic heterogeneity complicate the diagnosis of these disorders. Furthermore since the expertise for their diagnosis and management is limited to select centers globally, the general pediatrician or physicians often fails to identify IEM as the underlying pathology in a given patient. There is therefore a need for a ready recokner, which will help in arriving at a diagnosis of an IEM. The Metagene software is designed to support the diagnosis of inborn errors of metabolism, but does not make a diagnosis of IEM.

It is the basis of an expert system. It provides comprehensive information on about 340 metabolic diseases, their important differential diagnosis, over 1200 associated clinical and laboratory findings, metabolic data (>600) and recent publications on the subject (about 900). Besides the reference database, there is provision for creating a separate database of one's own patients. In this database one can enter and store clinical and metabolic data.

Information can be searched by using either the disease, clinical features or the abnormal metabolites. Selection of the disease window allows one to access one of the 340 IEMs listed in the database. Through several windows one can gather more detailed information on the disease such as the enzymatic deficiency, the abnormal gene locus (if known), epidemiology and inheritance, clinical and laboratory features, outline of the therapy and current literature. If one wishes to obtain more information on the metabolites, then the metabolites menu is the correct choice. It provides age related normative values and details of mass spectroscopic chromatograms.

The software also provides addresses and details of hospitals and laboratories in Germany that are linked to management of IEMs. The database allows the user to add or delete information of such institutions and may be particularly useful for those outside of Germany who might wish to add their own regional laboratory or institutional details.

The authors of this software claim to have almost two decades of experience in the diagnosis and treatment of patients with IEM. The software does not claim to substitute the already available textbooks on the subject but is meant to help experts and non-experts alike to access information rapidly. The software should be used in all laboratories or out- patient services wherein inborn errors of metabolism are diagnosed or treated. The authors promise a frequent update of the software to keep pace with rapidly accumulating information on inborn errors of metabolism.

Siddarth Ramji,
Professor,
Department of Pediatrics,
Maulana Azad Medical College,
New Delhi 110 002,
India.