Inborn Diseases

Inborn Diseases There are many disease considered to be inborn errors of metabolism due to a lack of a particular enzyme. This missing biological catalyst can have many effects on a person. Some of these diseases are Galactosemia, Phenylketonuria (PKU), Lactose Intolerance, and Maple Syrup Urine disease (MSUD). GALACTOSEMIA Classic Galactosemia is a rare genetic metabolic disorder. The child with classic galactosemia inherits a gene for galactosemia from both parents, who are carriers. Normally when …

…be utilized for protein synthesis in the body, thus rapidly decreasing the BCAA levels. Sometimes insulin or a similar agent is also given to speed up the utolization of the excess BCAAs. Additional Adding isoleucine and valine helps prevent deficiencies of these two BCAAs since thse levels drop more rapidly than leucine. Levels too low in insoleucine and valine can cause severe rashes on the infant and prevent leucine from dropping to an acceptable level.