Citrullinemia

 

Citrullinemia is a condition with different forms and different genetic causes.

Citrullinemia type I (CIT-I) is also known as classic citrullinemia. It occurs when an enzyme, argininosuccinic acid synthetase, in the body is either missing or not working well. Citrullinemia type I is both an amino acid condition and a urea cycle disorder. Symptoms often can be seen in the first few days of life when harmful substances, including ammonia, begin to build up in the body. Ammonia in high amounts is toxic to the brain. Symptoms may include extreme tiredness/lethargy, poor feeding, vomiting, seizures, changes in muscle tone, increased intracranial pressure, developmental delay, coma and/or other potential signs and symptoms. Citrullinemia type I can be a life-threatening condition. Support groups are available to help connect families living with citrullinemia type I with others who have experience or expertise with this condition.

To learn more about Type I Citrullinemia, visit Screening, Technology, and Research in Genetics (STAR-G): Citrullinemia and Baby's First Test: Citrullinemia, Type I. Please see Medically Prescribed Formula for information about medically prescribed formula and pharmacologic interventions for inborn errors of metabolism. A listing of contact information for Minnesota inborn errors of metabolism medical specialty providers/clinics serving children affected with or undergoing evaluation for conditions that can be detected through Minnesota Newborn Screening is available upon request.

Citrullinemia, type II (CIT-II) is a condition in which the body is unable to make citrin. Citrin is a protein that helps move substances within the cells. Symptoms may include neuropsychiatric signs, high levels of ammonia in the blood and/or other potential signs and symptoms. Ammonia in high amounts is toxic to the brain. Affected individuals may or may not have had different, serious signs and symptoms as infants or children.

For more information about Citrullinemia, Type II, visit Baby's First Test: Citrullinemia, Type II. Please see Medically Prescribed Formula for information about medically prescribed formula and pharmacologic interventions for inborn errors of metabolism. A listing of contact information for Minnesota inborn errors of metabolism medical specialty providers/clinics serving children affected with or undergoing evaluation for conditions that can be detected through Minnesota Newborn Screening is available upon request.