citrullinemia type II
Findings
No curated finding names citrullinemia type II yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Citrullinemia type II is 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.
Definition from the Mondo Disease Ontology (MONDO:0016603), read 2026-09-29. CC BY 4.0.
Features
46 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Acute hyperammonemiaHPOHP:0008281
- Very frequent (80% to 99% of cases)
- Decreased body mass indexHPOHP:0045082
- Very frequent (80% to 99% of cases)
- Elevated circulating citrulline concentrationHPOHP:0011966
- Very frequent (80% to 99% of cases)
- Hepatic steatosisHPOHP:0001397
- Very frequent (80% to 99% of cases)
- Abnormal eating behaviorHPOHP:0100738
- Frequent (30% to 79% of cases)
- Aggressive behaviorHPOHP:0000718
- Frequent (30% to 79% of cases)
- Asterixis
Show the remaining 34
- Fluctuations in consciousnessHPOHP:0007159
- Frequent (30% to 79% of cases)
- HallucinationsHPOHP:0000738
- Frequent (30% to 79% of cases)
- HepatomegalyHPOHP:0002240
- Frequent (30% to 79% of cases)
- HyperlipidemiaHPOHP:0003077
- Frequent (30% to 79% of cases)
- HypertriglyceridemiaHPOHP:0002155
- Frequent (30% to 79% of cases)
- HypoalbuminemiaHPOHP:0003073
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC25A13HGNC:10983
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
- Narrower terms (1)
Other names
5 names
Resolves to: citrullinemia type II
- Also called
- adult-onset citrin deficiencyadult-onset type 2 citrullinemiaadult-onset type II citrullinemiacitrullinemia type 2CTLN2