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citrullinemia type 2
Adult & neonatal onset forms. Pathololgy:
- hyperammonemia
Genetics:
- autosomal recessive
- mutation in gene for solute carrier family 25 member 13 (SLC25A13)
Clinical manifestations:
- onset is sudden & usually between the ages of 20 & 50 years
- a form with neonatal onset exists (see NICCD)
- see hyperammonemia
Laboratory:
- serum citrulline elevated
- urine citrulline elevated
- plasma ammonia elevated
Related
citrulline
Specific
neonatal intrahepatic cholestasis due to citrin deficiency (NICCD)
General
citrullinemia
Database Correlations
OMIM correlations
References
OMIM :accession 603471