Amino acids are essentially the building blocks of proteins. When we eat protein from foods such as meat, fish and eggs, our body breaks it down into amino acids using a series of chemical reactions.
Proteins and peptides are structurally very similar, both are parts of the cells in our body and they both carry out important functions. Like proteins, peptides are made up of amino acids ad these can be broken down through a series of reactions into the individual amino acids so the body can use them.
In this group of disorders, enzymes do not work properly which means your body has problems breaking down certain amino acids, or has a problem getting the amino acids into the cells that need them. This leads to a build-up of substances which will then become toxic to the body and cause problems. These problems can be serious, and sometimes life-threatening. In some disorders this can cause a metabolic crisis, which is a severe and often rapid onset of symptoms, requiring immediate treatment. Other disorders will see serious problems develop with time if they are left untreated. These disorders will require lifelong dietary management and treatment. You’ll be seen regularly by a metabolic specialist who will tailor your diet to meet your exact needs and a consultant who will oversee the management of your condition.