Related Experiment Video

Updated: Aug 3, 2025

Early Pathological and Magnetic Resonance Detection of Cerebral Injury Using a Rat Model of Neonatal Hypoxic Ischemic Encephalopathy
05:52

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The prognosis of citrin deficiency differs between early-identified newborn and later-onset symptomatic infants

Cheng-Yu Chen1,2, Mei-Hwei Chang1, Huey-Ling Chen1

  • 1Department of Pediatrics, National Taiwan University Hospital, National Taiwan University, Taipei, Taiwan.

Pediatric Research
|April 7, 2023
PubMed

Insights

Early diagnosis of citrin deficiency via newborn screening leads to better patient outcomes. Patients identified early experience less severe cholestasis and recover faster, highlighting the importance of timely intervention and follow-up care.

Area of Science:

  • Genetics
  • Metabolic Disorders
  • Pediatric Medicine

Background:

  • Citrin deficiency, a genetic disorder, can lead to neonatal intrahepatic cholestasis (NICCD).
  • The prognosis for NICCD is not always favorable, necessitating early identification strategies.
  • This study compares outcomes of early vs. late diagnosis in citrin deficiency patients.

Purpose of the Study:

  • To investigate the prognostic differences between citrin deficiency patients identified via newborn screening (NBS) and those diagnosed later due to cholestasis/hepatitis.
  • To evaluate the impact of early diagnosis on disease severity and recovery time.

Main Methods:

  • Retrospective analysis of 42 genetically confirmed SLC25A13 mutation patients.
  • Categorization into two groups: 15 identified by NBS and 27 diagnosed clinically.
  • Data collection on diagnosis age, cholestasis, liver enzymes, and long-term outcomes.

Main Results:

  • Newborn screening (NBS) group patients were diagnosed younger and achieved cholestasis-free status earlier.
  • NBS group showed significantly lower peak direct bilirubin and liver enzyme levels.
  • Long-term follow-up revealed 21% dyslipidemia and 36% failure to thrive; overall mortality was 2.4%.

Conclusions:

  • Early identification of citrin deficiency through NBS is associated with a better prognosis.
  • Timely diagnosis and consistent follow-up are crucial for improving long-term outcomes in NICCD patients.
Abstract

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