Nutritional and pharmacological treatment of Citrin protein deficiency
Citrin deficiency is an autosomal recessive genetic disorder caused by pathogenic variations in the biallelic genes of the SLC25A13 gene located on chromosome 7q21.3,which included neonatal intrahepatic cholestasis caused by Citrin deficiency(NICCD),failure to thrive and dyslipidemia caused by Citrin deficiency(FTTDCD),and adult-onset type Ⅱ citrullinemia(CTLN2).Dietary intervention is a key measure for NICCD and FTTDCD.Excessive carbohydrate intake can exacerbate the condition.Supplementation of medium-chain fatty acids can provide energy to the liver cells and promote lipid synthesis.Liver transplantation is the fundamental treatment for Citrin deficiency syndrome,but due to donor scarcity and high cost,nutritional intervention and drug therapy remain the main clinical approaches.This paper briefly reviewed the metabolic pathways,pathogenic mechanism,clinical manifestations of Citrin deficiency,and drug and nutritional treatment methods.
Citrin protein deficiencycitrullinemianutrition therapydrug therapy
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