Citrullinemia, Type II (CIT II)

Conditions

About

Citrullinemia, type II (CIT II) is a condition in which the body is unable to make citrin, a protein that helps move substances within the cells. These substances are important for breaking down sugars, producing proteins and nucleotides, and allowing for the normal function of the liver. People with this condition are unable to transport certain amino acids into mitochondria, the energy-production centers of the cell. CIT II is also called a urea cycle condition. This name is used to describe conditions that cause ammonia to accumulate in the bloodstream.  Signs of CIT-II can begin in infancy, adolescence, and adulthood. In babies, the signs of CIT-II usually begin between one and five months of age, and include yellowish skin and eyes, low birth weight, delayed growth, and low blood sugar. Some of these signs may be seen especially when babies with CIT-II eat foods that the bodies cannot break down.

Condition Type:

Secondary

Frequency:

Citrullinemia, type II (CIT II) is most common in the Japanese population, where it affects 1 out of every 100,000 to 230,000 individuals.

More Information for Parents:
Also known as:
  • CIT II (type 2)
  • Neonatal intrahepatic cholestasis caused by citrin deficiency (neonatal form only type 2)
  • NICCD (neonatal form only Citrin deficiency (type 2)

Core Conditions

Secondary