| Disease ID | Source | Name | Description |
| 605814 | OMIM | Cholestasis, neonatal intrahepatic, caused by citrin deficiency (NICCD) | A form of citrullinemia type 2 with neonatal onset, characterized by suppression of the bile flow, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, variable liver dysfunction. Neonatal intrahepatic cholestasis due to citrin deficiency is generally not severe and symptoms disappear by one year of age with an appropriate diet. Years or even decades later, however, some individuals develop the characteristic features of citrullinemia type 2 with neuropsychiatric symptoms. The disease is caused by variants affecting the gene represented in this entry. |
| 603471 | OMIM | Citrullinemia 2 (CTLN2) | A form of citrullinemia, an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. Citrullinemia type 2 is characterized by neuropsychiatric symptoms including abnormal behaviors, loss of memory, seizures and coma. Death can result from brain edema. Onset is sudden and usually between the ages of 20 and 50 years. The disease is caused by variants affecting the gene represented in this entry. |