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 )

Relationships
is a type of: citrullinemia