Details of Disease

General Information of Disease (ID: DISJFLV7)

• Disease Name: Citrullinemia, type II, adult-onset
• Synonyms: CTLN2; citrullinemia, type II, ADULT-onset; adult-onset citrullinemia type II; adult-onset citrullinemia type 2; citrullinemia type 2; citrullinemia type II; citrin deficiency; citrullinemia, type II, adult-onset; citrullinemia, adult-onset type II
• 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.|TODO - merge into parent
• Disease Hierarchy:
  DIS2UURN: Citrullinemia type II
  DISJFLV7: Citrullinemia, type II, adult-onset

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC25A13	OTTZVSK6	Strong	Autosomal recessive	[1]

References

• [1] The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Nat Genet. 1999 Jun;22(2):159-63. doi: 10.1038/9667.