adult-onset type II citrullinemia

Term ID

DOID:0070342

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. https://pubmed.ncbi.nlm.nih.gov/18620775/

References

• MIM:603471
• ORDO:247585

Ontology

Human Disease   ( DOID:0070342 )