| Term Name: | adult-onset type II citrullinemia | 
|---|---|
| Synonyms: | adolescent- or adult-onset citrin deficiency, citrin deficiency, CTLN2 | 
| Definition: | A citrullinemia characterized by the sudden onset of various neuropsychologic symptoms such as disorientation, abnormal behavior, convulsions, and coma due to hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21. | 
| Ontology: | Human Disease [DOID:0070342] ( DOID:0070342 ) |