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Updated: Jul 29, 2025

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Citrin Deficiency: Clinical and Nutritional Features.

Michiharu Komatsu1, Naoki Tanaka2,3,4, Takefumi Kimura5

  • 1Department of Gastroenterology, Suwa Red Cross Hospital, Suwa 392-8510, Nagano, Japan.

Nutrients
|May 27, 2023
PubMed
Summary

Mutations in the SLC25A13 gene cause citrin deficiency (CD), a condition impacting liver health. Nutritional therapy, including medium-chain triglycerides, is key to managing CD-associated fatty liver disease and preventing hyperammonemia.

Keywords:
PPARαavoidance of glycerol administrationlean NAFLDpeculiar dietary habits

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Area of Science:

  • Genetics and Metabolism
  • Hepatology
  • Nutritional Science

Background:

  • Mutations in the SLC25A13 gene lead to citrin deficiency (CD), manifesting as neonatal intrahepatic cholestasis or adult-onset type II citrullinemia (CTLN2).
  • CD patients often exhibit compensatory metabolic adaptations and distinct dietary preferences (low carbohydrate, high fat/protein).
  • Triggers like carbohydrate overload or alcohol can precipitate CTLN2, causing hyperammonemia and neurological symptoms.

Purpose of the Study:

  • To review the clinical and nutritional characteristics of CD-associated fatty liver disease.
  • To highlight promising nutritional interventions for managing CD.

Main Methods:

  • Literature review of clinical and nutritional studies on citrin deficiency.
  • Analysis of metabolic compensation mechanisms and dietary patterns in CD patients.
  • Examination of the pathophysiology of CD-induced fatty liver, including PPAR-α pathway alterations.

Main Results:

  • Asymptomatic CD patients may be misdiagnosed with lean non-alcoholic fatty liver disease, increasing risks for cirrhosis and cancer.
  • CD-induced fatty liver shows suppressed peroxisome proliferator-activated receptor α activity, impairing fatty acid metabolism.
  • Medium-chain triglycerides and sodium pyruvate show promise in preventing hyperammonemia.

Conclusions:

  • Nutritional therapy is a cornerstone treatment for citrin deficiency.
  • Specific nutritional strategies, avoiding glycerol, are crucial for managing CD-associated fatty liver and preventing hyperammonemia.