citrullinemia type 2

Introduction

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

More general terms

• citrullinemia

More specific terms

• neonatal intrahepatic cholestasis due to citrin deficiency (NICCD)

Additional terms

• citrulline

Database

• OMIM: https://mirror.omim.org/entry/603471
• OMIM: https://mirror.omim.org/entry/605814