Biochemical characteristics of neonatal cholestasis induced by citrin deficiency
نویسندگان
چکیده
منابع مشابه
Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency in Korean Infants
Citrin is a liver-type mitochondrial aspartate-glutamate carrier encoded by the SLC25A13 gene, and its deficiency causes adult-onset type II citrullinemia and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). Here, the authors investigated clinical findings in Korean infants with NICCD and performed mutation analysis on the SLC25A13 gene. Of 47 patients with neonatal choles...
متن کاملIntrahepatic Cholestasis Caused by Citrin Deficiency
Citrullinemia is the earliest identifiable biochemical abnormality in 13 neonates with intrahepatic cholestasis due to a citrin deficiency (NICCD) and it has 14 been included in newborn screening panels using tandem mass spectrometry. 15 However, only one neonate was positive among 600,000 infants born in Sapporo 16 city and Hokkaido, Japan between 2006 and 2017. We investigated 12 neonates wit...
متن کاملIntrahepatic Cholestasis Secondary to Citrin Deficiency
Citrin deficiency (neonatal-onset type II citrullinemia), is an autosomal recessive metabolic disorder, caused by a mutation of the SLC25A13 gene. The defective transport between the mitochondria and the cytosol, leads to insufficient substrate for argininosuccinate synthetase (ASS) and secondary functional deficiency of ASS activity [1]. Infants with citrin deficiency, have transient intrahepa...
متن کاملNeonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among thai infants
BACKGROUND The most common causes of cholestatic jaundice are biliary atresia and idiopathic neonatal hepatitis (INH). Specific disorders underlying INH, such as various infectious and metabolic causes, including neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) especially, in East Asian populations are increasingly being identified. Since most NICCD infants recovered from l...
متن کاملNeonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in three Malay children.
Citrin deficiency is an autosomal recessive disorder caused by mutation in the SLC25AJ3 gene. It has two major phenotypes: adult-onset type II citrullinemia (CTLN2) and neonatal intrahepatic cholestatic caused by citrin deficiency (NICCD). NICCD is characterized by neonatal/infantile-onset cholestatic hepatitis syndrome associated with multiple amino acidemia and hypergalactosemia. NICCD is sel...
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ژورنال
عنوان ژورنال: World Journal of Gastroenterology
سال: 2012
ISSN: 1007-9327
DOI: 10.3748/wjg.v18.i39.5601