neonatal intrahepatic cholestasis due to citrin deficiency (NICCD)

Introduction

A form of citrullinemia type 2 with neonatal onset.

Pathology

• suppression of the bile flow
• hepatic fibrosis

Genetics

• associated with defects in SLC25A13

Clinical manifestations

• low birth weight
• growth retardation
• generally not severe & symptoms disappear by one year of age with an appropriate diet

Laboratory

• serum protein: hypoproteinemia
• liver function tests: variable liver dysfunction

Complications

• years or even decades later, some patients develop characteristic features of hyperammonemia

Management

• nutritional consult
• protein restriction

More general terms

• citrullinemia type 2
• neonatal disorder or disease

Database

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