Metadata | |
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ID | DOID:0070342 |
Name | adult-onset type II citrullinemia |
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. https://pubmed.ncbi.nlm.nih.gov/18620775/ |
Xrefs | |
Synonyms |
adolescent- or adult-onset citrin deficiency [EXACT] citrin deficiency [EXACT] CTLN2 [EXACT] |
Parent Relationships |
is_a citrullinemia |
Subclass Logical Relationships |
existence starts during some Adult onset |