Disorders of amino acid metabolism

Aminokiseline su osnovne građevne jedinice proteina. Građene su od središnjeg ugljikovog atoma na kojeg su vezane četiri skupine, amino-skupina, vodikov atom, karboksilna-skupina i bočni ogranak koji čini svaku aminokiselinu jedinstvenom po svojoj strukturi. Svakodnevno organizam razgrađuje i sintetizira aminokiseline stoga u njihovom metabolizmu može doći do pogrešaka koje dovode do raznih poremećaja. Najčešća pogreška koja dovodi do razvitka poremećaja je nedostatak bitnih enzima koji prevode aminokiseline iz jedne u drugu. Zbog toga u organizmu dolazi do nakupljanja štetnih međuprodukata u krvi ili urinu i zbog kojih dolazi do razvitka raznih bolesti. Najčešći poremećaj u metabolizmu aminokiselina je fenilketonurija do koje dolazi zbog nedostatka enzima koji katalizira pretvorbu fenilalanina u tirozin, a karakteriziraju ju ponajviše poteškoće u mentalnom razvoju. Uz fenilketonuriju u poremećaje metabolizma aminokiselina ubrajaju se i bolest urina mirisa javorovog sirupa, homocistinurija, tirozinemija, neketotička hiperglicinemija, te poremećaji u ciklusu uree koji su jednako učestali ali i opasni.Amino acids are the basic building blocks of proteins. They are built of a central carbon atom to which four groups are attached, an amino group, a hydrogen atom, a carboxyl group and a side branch that makes each amino acid unique in its structure. Every day, the body breaks down and synthesizes amino acids, therefore mistakes can occur in their metabolism that lead to various disorders. The most common mistake that leads to the development of disorders is the lack of essential enzymes that convert amino acids from one to another. Because of this, the body accumulates harmful intermediate products in the blood or urine, which leads to the development of various diseases. The most common disorder in the metabolism of amino acids is phenylketonuria, which occurs due to the lack of an enzyme that catalyzes the conversion of phenylalanine to tyrosine, and is characterized mainly by difficulties in mental development. In addition to phenylketonuria, disorders of amino acid metabolism include maple syrup urine disease, homocystinuria, tyrosinemia, non-ketotic hyperglycinemia, and disorders in the urea cycle, which are equally frequent but also dangerous