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Citrin deficiency-The East-side story
1University Children's Hospital Zurich and Children's Research Center, University of Zurich, Zurich, Switzerland.
Journal of Inherited Metabolic Disease
|July 12, 2024
Summary
Citrin deficiency (CD) is a complex metabolic disorder affecting multiple pathways. Early diagnosis is crucial for managing neonates with cholestasis and hyperammonemia.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Citrin deficiency (CD) results from SLC25A13 gene defects, impacting the aspartate/glutamate carrier in mitochondria.
- Initially misclassified as a urea cycle disorder, CD's broader metabolic effects are now recognized.
Purpose of the Study:
- To review the history and evolving understanding of citrin deficiency.
- To highlight the importance of considering CD in differential diagnoses for specific patient groups.
Main Methods:
- Literature review of citrin deficiency research.
- Analysis of clinical presentations and genetic findings.
Main Results:
- CD affects the malate-aspartate shuttle, impacting glycolysis, gluconeogenesis, lipogenesis, and ureagenesis.
- CD is a global disease with diverse genotypes, not limited to East Asian populations.
Conclusions:
- CD requires consideration in neonates with cholestasis and in patients with unexplained hyperammonemia.
- Accurate diagnosis of CD impacts emergency management strategies.
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