citrullinemia, type II, adult-onset
Findings
No curated finding names citrullinemia, type II, adult-onset yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake.The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia.adult-onset citrullinemia type II is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern.
Definition from the Mondo Disease Ontology (MONDO:0011326), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
17 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.
- Elevated circulating citrulline concentrationHPOHP:0011966
- 37 of 37 reported patients
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 17 of 19 reported patients
- Hepatic steatosisHPOHP:0001397
- 17 of 19 reported patients
- Elevated gamma-glutamyltransferase levelHPOHP:0030948
- 15 of 19 reported patients
- Hepatic fibrosisHPOHP:0001395
- 11 of 14 reported patients
- Hyperammonemia
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
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: citrullinemia, type II, adult-onset
- Also called
- citrullinemia, adult-onset type II