Term Name: | adult-onset type II citrullinemia |
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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 ) |