Urea Cycle Defects are a group of inherited metabolic diseases, characterized by deficiencies in enzymes and transporters involved in the urea cycle, a metabolic pathway dedicated to the transformation of ammonium (produced by the catabolism of amino acids) into urea, which in turn is eliminated from the body via urine.
The defects of the urea cycle therefore lead to a reduced elimination of ammonium, which is a highly toxic substance for the central nervous system.
Some forms of UCD can be treated exclusively through restricting food proteins, in order to reduce the amount of ammonium deriving from their catabolism.
However, a low-protein diet may not be able to provide the right amount of essential amino acids that the body needs; for this reason, the patient suffering from urea cycle defects should supplement a low-protein diet with a mix of essential amino acids.
Moreover, in some cases it is necessary to intervene with a specific pharmacological treatment that supports the removal of ammonium.
PIAM, always attentive to issues related to rare or low-prevalence diseases, offers a range of amino acid mixtures essential for the proper nutritional management of the patient suffering from defects in the urea cycle, providing tailor-made solutions for all ages, from childhood to adulthood.