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Citrullinemia type II

Disease Export to PDF
Name:
Citrullinemia type II
Description:
A severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.
ORPHAcode:
247585
Synonyms:
Adult-onset citrin deficiency
Adult-onset citrullinemia type 2
Adult-onset citrullinemia type II
CTLN2
Citrullinemia type 2
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
SLC25A13
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14