Introduction - Metabolism & Metabolic DisordersMetabolism is the sum total of all chemical and physical changes that take place in any organism that enables it to function and grow. It is nothing different from reactions taking place inside a chemistry laboratory. Just that it tends to happen in a more controlled way inside the body. The metabolic process is dependent on a number of factors such as enzymes and other chemical compounds for its completion. It can be represented as Enzyme Y↑Substrate A → Product B → Product C ↓ (Final end product)Enzyme X In a few cases, there is a block in any one of the steps of a reaction, either due to absence or deficiency of a particular Enzyme. A disease arising out of such a defect is called a metabolic disorder. Published on Feb 17, 2016Last Updated on Nov 17, 2016 Latest Publications and Research on Metabolic Defects New Horizons for Molecular Genetics Diagnostic and Research in Autism Spectrum Disorder. - Published by PubMed Ascorbate and Iron Are Required for the Specification and Long-Term Self-Renewal of Human Skeletal Mesenchymal Stromal Cells. - Published by PubMed Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities. - Published by PubMed Inhibiting MARSs reduces hyperhomocysteinemia-associated neural tube and congenital heart defects. - Published by PubMed Metabolically healthy obesity is associated with longitudinal changes in high-density lipoprotein cholesterol in Chinese adults. - Published by PubMed
