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Prenatal diagnosis of citrin deficiency in a Chinese family with a fatal proband.
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Citrin deficiency (CD) is an autosomal recessive disorder with SLC25A13 as causative gene that encodes citrin, the liver-type aspartate/glutamate carrier isoform 2 (AGC2). Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), the major CD phenotype at pediatric age, has been
A Case Report: Can Citrin Deficiency Lead to Hepatocellular Carcinoma in Children?
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Citrin deficiency initially presents as neonatal intrahepatic cholestasis (NICCD) and often resolves within first year of infancy. Failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD) has been recently proposed as a novel post-NICCD phenotype and its clinical features are still
Chronic pancreatitis and pancreatic pseudocyst with adult-onset type II citrullinemia.
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Citrin deficiency, which is caused by a mutation of SCL25A13, can manifest in older children as failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD) and in adults as recurrent hyperammonemia with neuropsychiatric symptoms in adult-onset type II citrullinemia (CTLN2). FTTDCD and
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