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The development and prognosis of the affected child may depend on rapid and effective treatment, but the large number of genetic defects in various biochemical pathways makes it difficult to be familiar with all diagnostic strategies and specific therapies. With this in mind, the Vademecum Metabolicum was written to provide practical guidance to the clinician.

It was first published in German in now in the 4th edition and was translated into nine other languages including English, Italian, French, Polish, Portuguese, Japanese, Chinese, Russian, and Farsi. The current primary print version is the 3rd English edition which is also the basis of the present electronic version of the Vademecum Metabolicum. As in the print editions, there are two conceptually different sections, a systematic presentation of individual metabolic pathways and their disorders one entry in the electronic table of contents and several chapters on the diagnosis and management of metabolic disorders based on clinical situations that may be caused by a metabolic disorder several entries in the electronic table of contents.

In the systematic pathway-based section, special emphasis has been placed on clinical features that are relevant to a whole group of diseases, useful diagnostic procedures basic and special diagnostic tests as well as details on emergency intervention and long-term treatment.

The pathobiochemistry is described in more detail when it is relevant to the understanding of clinical symptoms and diagnostic tests. Practical guidelines are discussed in detail and should reflect standard practice in many countries.

The sequence of the entries is either according to metabolic pathways or nomenclature.


The genetic basis of most disorders in the Vademecum Metabolicum has now been clarified, and the causative genes have been included when known. Throughout the text we have removed references to molecular studies as part of the diagnostic strategy since mutation analyses are now a standard option for confirmation of most metabolic disorders. Inheritance of the disorders is autosomal recessive unless specified otherwise. Tab 3 Medicine is an ever-changing science, so the contents of this publication, especially recommendations concerning diagnostic and therapeutic procedures, can only give an account of the knowledge at the time of publication.

While utmost care has been taken to ensure that all specifications regarding drug selection and dosage and treatment options are accurate, readers are urged to review the product information sheet and any relevant material supplied by the manufacturer, and, in case of doubt, to consult a specialist.

The ultimate responsibility for any diagnostic or therapeutic application lies with the reader. No special reference is made to registered names, proprietary names, trademarks etc. The appearance of a name without designation as proprietary does not imply that it is exempt from the relevant protective laws and regulations and therefore free for general use.Jai Bharadwaj, Mili's father and owner of The Serenity Tea Estate in the idyllic Nilgiris would've probably liked to do the same, but being who he was, he had to ask her first.

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