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[Full-cycle, multidisciplinary and systematic management of citrin deficiency]
1Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou 510630, China.
Summary
Citrullinemia type 2 is a genetic disorder caused by mutations in the SLC25A13 gene, leading to citrin deficiency. Management focuses on dietary therapy and multidisciplinary care throughout the patient
Area of Science:
- Genetics and Molecular Biology
- Biochemistry
- Pediatrics and Metabolic Disorders
Context:
- Citrin deficiency (CD) is an autosomal recessive genetic disease.
- Identified in 1999, CD is linked to the SLC25A13 gene and its protein product, citrin.
- Significant research advancements have occurred over the past 25 years.
Purpose:
- To review the progress in understanding citrin deficiency (CD).
- To highlight the pathophysiological mechanisms, clinical phenotypes, diagnosis, and treatment of CD.
- To emphasize the importance of comprehensive management strategies.
Summary:
- Three age-dependent clinical phenotypes of CD are recognized: neonatal intrahepatic cholestasis, failure to thrive with dyslipidemia, and adult-onset type 2 citrullinemia.
- While drug development and liver transplantation are explored, scientific dietary therapy is crucial.
- Management requires a full-life-cycle, multidisciplinary approach involving healthcare professionals, families, and society.
Impact:
- Improved understanding of CD pathophysiology and clinical manifestations.
- Established dietary therapy as a cornerstone of CD management.
- Promotes a holistic, lifelong approach to patient care for better health outcomes.
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