citrullinemia type 2, adult onset

(redirected from citrin deficiency)

citrullinemia type 2, adult onset

An autosomal recessive disorder of the urea cycle (OMIM:603471), usually of abrupt onset between age 20 and 50, which is clinically characterised by neuropsychiatric symptoms (e.g., abnormal behaviour, loss of memory, seizures), coma and death linked to brain oedema, accompanied by a marked increase in serum and urine citrulline and ammonia.

Molecular pathology
Caused by defects in SLC25A13, which catalyses the exchange of glutamate with aspartate across the mitochondrial inner membrane.
References in periodicals archive ?
The clinical details pertaining to case 1 of citrin deficiency have been reported elsewhere (10).
In the patient with citrin deficiency (case 1), array CGH showed a heterozygous deletion within the SLC25A13 gene on chromosome 7g21.
Similarly, citrin deficiency often presents with an increased citrulline concentration, but it must be distinguished from disease caused by mutations in ASST (argininosuccinate synthetase) and ASL (argininosuccinate lyase).