(PDF) Inborn metabolic disorders – An update | International Journal of Bioassays - orphansofwar.infoTreatment of inborn errors of metabolism. I Doutora. OBJECTIVE: To describe the current state of treatment for disorders of intermediate metabolism primarily of amino acids, urea cycle and organic acids and for diseases related to two subcellular organelles lysosomes and peroxisomes. The article also provides a general overview of the treatment for lysosomal and peroxisomal diseases, with emphasis on enzyme replacement therapy, which is a treatment modality that is growing in use and with which pediatricians should make themselves familiar. The section on treatment for lysosomal and peroxisomal diseases includes tables providing information on the treatments available. This article provides practical information relating to the management of some inborn errors of metabolism and provides pediatricians with a general overview of recent developments in this area of medicine.
Inborn Metabolic Diseases
The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness both pioneers in this topic. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing.
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For those involved in the identification and management of patients with inborn errors of metabolism, this book is now recognised as the standard textbook in this interdisciplinary field. It has proved to be indispensable for professionals in specialities ranging from pediatrics, neonatology, pathological biochemistry and genetics to neurology, internal medicine, nursing, dietetics and psychology. This 5th edition has been extensively revised and updated. As with previous editions, the book opens with a section presenting the clinical approach to inborn metabolic diseases for those cases in which a diagnosis is being sought. This now includes a chapter on the clinical presentation of metabolic diseases in the older age range, using an analogous structure.
It seems that you're in Germany. We have a dedicated site for Germany. This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism IEM and an essential resource in this multidisciplinary field. For the 6 th edition all 43 chapters have been newly written or revised by authors with particular expertise in their subject areas. Jean-Marie Saudubray, M.
The inherited metabolic diseases IMD section publishes original research clinical, biochemical, and genetic , well-phenotyped case series, clinical trial outcome reports, and comprehensive reviews of rare inherited disorders of metabolism. Submissions that increase our understanding or make new observations regarding IMD are particularly welcome. Detailed natural history studies of well-phenotyped case series, and publication of consensus statements on investigation and management of IMD, including collaborations between centres, are encouraged. Content type: Research. The diagnosis of TMAU is challenging because this disorder is situated Citation: Orphanet Journal of Rare Diseases 14