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Metabolic diseases is diseases or disorders that disrupt normal metabolism, the process of converting food to energy on a cellular level. Thousands of enzymes participating in numerous interdependent metabolic pathways carry out this process. Metabolic diseases affect the ability of the cell to perform critical biochemical reactions that involve the processing or transport of proteins (amino acids), carbohydrates (sugars and starches), or lipids (fatty acids).Metabolic diseases are typically hereditary, yet most persons affected by them may appear healthy for days, months, or even years. The onset of symptoms usually occurs when the body’s metabolism comes under stress—for example, after prolonged fasting or during a febrile illness. For some metabolic disorders, it is possible to obtain prenatal diagnostic screening. Such analysis usually is offered to families who have previously had a child with a metabolic disease or who are in a defined ethnic group.
Metabolic diseases are quite rare individually, but they are relatively common when considered as a group. Specific metabolic disorders have incidences ranging from approximately 1 in 500 (or even higher in isolated populations) to fewer than 1 in 1,000,000. As a group, it has been estimated that metabolic disorders affect approximately 1 in 1,000 individuals. The consequences of metabolic imbalance may be severe; mental retardation, seizures, decreased muscle tone, organ failure, blindness, and deafness may occur, depending on which enzyme is dysfunctional. In recent years, it has become apparent that even some conditions associated with multiple congenital anomalies (e.g., Smith-Lemli-Opitz syndrome) have an underlying metabolic cause.
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Metabolic diseases Conferences in 2015:
• 64th Annual Meeting, American Society of Human Genetics, California
• Obesity and the Metabolic Syndrome: Mitochondria and Energy Expenditure (X7),Canada,2015
• 2nd Australian Lipid Meeting, Wollongong, NSW, Australia
• Mitochondria, Metabolism and Heart Failure,US,2015
• Systems Biology of Lipid Metabolism 2015, Breckenridge, USA
• International Conference on Systems Biology and Bioengineering (ICSBB 2015),Turkey
• Metabolomics and Epidemiology Symposium at RTI International, NC USA
Lists of Societies related to Metabolic diseases:
• Society for the Study of Inborn Errors of Metabolism: SSIEM,London, UK
• British Inherited Metabolic Disease Group,London
• The Metabolomics Society,US
• COSMOS - COordination of Standards in MetabOlomicS ,UK
• Northwest Metabolomics Research Center (NW-MRC), Seattle,US
• Swedish Metabolomics Centre, Sweden
• Netherlands Metabolomics Centre.
• PRiMe Platform for Riken Metabolomics
Major Metabolic diseases related Companies:
• Isis Pharmaceuticals,Carlsbad, CA
• Metabolomic Diagnostics Ltd, Ireland
• Pfizer Inc. New York
• Phenomenome Discoveries, Canada
• Metabometrix , London
• Metabolon, USA
• Lipomics, California
This page will be updated regularly.
This page was last updated on April 8, 2020