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Metadata
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

MIM:603471

ORDO:247585

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

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