Neonatal cholestasis due to citrin deficiency: diagnostic pitfalls

Acta Biochim Pol. 2020 May 21;67(2):225-228. doi: 10.18388/abp.2020_5202.

Abstract

Citrin deficiency can manifest in newborns or infants as neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). The paper presents a case of Polish NICCD patient presenting with low birth weight, failure to thrive, prolonged cholestatic jaundice with coagulopathy and hypoalbuminemia with normal results of MS/MS newborn screening but with high blood citrulline level observed at 3 months of age. Unreported findings included N-hypoglycosylation and increased serum very-long-chain fatty acids (VLCFA), probably secondary to liver impairment. Final diagnosis was established based on whole-exome sequencing (WES) analysis.

Publication types

  • Case Reports

MeSH terms

  • Blood Coagulation Disorders / complications*
  • Blood Coagulation Disorders / drug therapy
  • Cholagogues and Choleretics / therapeutic use
  • Cholestasis, Intrahepatic / diagnosis*
  • Cholestasis, Intrahepatic / drug therapy
  • Cholestasis, Intrahepatic / etiology
  • Citrulline / blood
  • Citrullinemia / complications*
  • Citrullinemia / diagnosis
  • Citrullinemia / drug therapy
  • Early Diagnosis
  • Exome Sequencing
  • Follow-Up Studies
  • Humans
  • Hypoalbuminemia / complications*
  • Hypoalbuminemia / drug therapy
  • Infant
  • Infant, Low Birth Weight
  • Infant, Newborn
  • Jaundice, Obstructive / diagnosis*
  • Jaundice, Obstructive / drug therapy
  • Jaundice, Obstructive / etiology
  • Male
  • Neonatal Screening
  • Retrospective Studies
  • Tandem Mass Spectrometry
  • Treatment Outcome
  • Ursodeoxycholic Acid / therapeutic use
  • Vitamins / therapeutic use

Substances

  • Cholagogues and Choleretics
  • Vitamins
  • Citrulline
  • Ursodeoxycholic Acid

Supplementary concepts

  • Neonatal-onset citrullinemia type 2