Immedica Pharma AB
Solnavägen 3H
113 63 Stockholm
Sweden
E-mail: info@immedica.com
Phone: +46(0)8 533 39 500
© 2023 All rights Reserved. Design by Immedica
Urea cycle disorders (UCD)
The urea cycle is a process in which waste (ammonia) is removed from the body. When you eat proteins, the body breaks them down into amino acids. Ammonia is produced from leftover amino acids, and it must be removed from the body.
The liver produces several chemicals (enzymes) that change ammonia into a form called urea, which the body can remove in the urine. If this process is disturbed, ammonia levels begin to rise.
Several inherited conditions can cause problems with this waste-removal process. People with a urea cycle disorder are missing a gene that makes the enzymes needed to break down ammonia in the body.
These diseases include:
As a group, these disorders occur in 1 in 30,000 newborns. OTC deficiency is the most common of these disorders.
Symptoms
Typically, the baby begins nursing well and seems normal. However, over time the baby develops poor feeding, vomiting, and sleepiness, which may be so deep that the baby is difficult to awaken. This usually occurs within the first week after birth.
Symptoms include:
Exams and tests
The health care provider will often diagnose these disorders when the child is still an infant.
Signs may include:
Tests may include:
Treatment of Urea cycle disorders
The main goal of treatment of UCDs is to avoid hyperammonemia in order to prevent neurological consequences. Chronic treatment consists of reduction of dietary protein along with pharmaceuticals and supplementation of essential amino acids, vitamins, trace elements. Additional treatment options for some patients are dialysis or liver transplantation.
References:
Immedica Pharma AB
Solnavägen 3H
113 63 Stockholm
Sweden
E-mail: info@immedica.com
Phone: +46(0)8 533 39 500
© 2023 All rights Reserved. Design by Immedica