Shortcast: Neonatal Acute Liver Failure due to Citrin Deficiency (NALFCD)

One newborn screen. Two very different diagnoses. And treatments that pull in opposite directions.

In this JIMD Reports Shortcast, Dr Anne Kwok from Hong Kong Children’s Hospital presents a newborn with markedly elevated citrulline, where distinguishing citrin deficiency from citrullinaemia type I became critical as initial treatment was followed by rapidly worsening liver failure.

Neonatal Acute Liver Failure due to Citrin Deficiency (NALFCD) Hoi-Yin Chan, et al https://doi.org/10.1002/jmd2.70110