Failure to thrive in an infant caused by citrin dificiency: A case report
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Abstract
Citrin deficiency is a rare inherited metabolic disorder caused by autosomal recessive mutations in the SLC25A13 gene. The most common early manifestation is neonatal intrahepatic cholestasis due to citrin deficiency (NICCD); however, failure to thrive may be a more prominent early feature, leading to delayed diagnostic evaluation. We report the case of a 12 -month-old female infant admitted at 1.5 months of age due to poor weight gain and anemia. She was born full-term and exclusively breastfed but showed inadequate weight gain. Physical examination revealed failure to thrive, pallor, mild jaundice, and mild hepatomegaly. Laboratory investigations demonstrated anemia with elevated ferritin levels, mild direct hyperbilirubinemia, increased liver enzymes, and mild coagulopathy, while newborn metabolic screening was unremarkable. Genetic analysis identified compound heterozygous mutations in SLC25A13, confirming the diagnosis of citrin deficiency. Appropriate dietary intervention resulted in rapid improvement of clinical and laboratory abnormalities, with subsequent catch-up growth. Failure to thrive and anemia may represent early manifestations of NICCD, highlighting the importance of early recognition and timely nutritional management to improve outcomes.
Article Details
Keywords
Citrin deficiency, NICCD, Failure to thrive, neonatal cholestasis, SLC25A13
References
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