citrullinemia type 2, adult onset

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Also found in: Acronyms.

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.