Journal of Cellular and Molecular Medicine, Volume 25, Issue 8, Page 4099-4109, April 2021., 2021 Abstract Urea cycle disorders (UCDs) are a group of rare metabolic conditions characterized by hyperammonemia and a broad spectrum of phenotypic severity. They are caused by the congenital deficiency in the eight biomolecules involved in urea cycle.
Fang Liu +6 more
wiley +1 more source
Citrin deficiency-The East-side story. [PDF]
J Inherit Metab DisAbstract Citrin deficiency (CD) is a complex metabolic condition due to defects in SLC25A13 encoding citrin, an aspartate/glutamate carrier located in the mitochondrial inner membrane. The condition was first described in Japan and other East Asian countries in patients who were thought to suffer from classical citrullinemia type 1, and was therefore ...
Häberle J.
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Frontiers in Pediatrics, 2022 Inborn errors of metabolism (IEMs) are strongly related to abnormal growth and development in newborns and can even result in death. In total, 94,648 newborns were enrolled for expanded newborn screening using tandem mass spectrometry (MS/MS) from 2016 ...
Muping Zhou +7 more
doaj +1 more source
A Case Report: Can Citrin Deficiency Lead to Hepatocellular Carcinoma in Children?
Frontiers in Pediatrics, 2019 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 ...
Jiayi He +6 more
doaj +1 more source
Exogenous aralar/slc25a12 can replace citrin/slc25a13 as malate aspartate shuttle component in liver
Molecular Genetics and Metabolism Reports, 2023 The deficiency of CITRIN, the liver mitochondrial aspartate–glutamate carrier (AGC), is the cause of four human clinical phenotypes, neonatal intrahepatic cholestasis caused by CITRIN deficiency (NICCD), silent period, failure to thrive and dyslipidemia ...
Luis González-Moreno +13 more
doaj +1 more source
Clinical manifestation and long‐term outcome of citrin deficiency: Report from a nationwide study in Japan [PDF]
, 2022 Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene. The disease can present with age-dependent clinical manifestations: neonatal intrahepatic cholestasis by citrin deficiency (NICCD), failure to thrive, and ...
Masayoshi Nagao +27 more
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Identification of a LargeSLC25A13Deletion via Sophisticated Molecular Analyses Using Peripheral Blood Lymphocytes in an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD): A Clinical and Molecular Study [PDF]
BioMed Research International, 2016 Background.Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a Mendelian disorder arising from biallelicSLC25A13mutations, andSLC25A13genetic analysis was indispensable for its definite diagnosis. However, conventionalSLC25A13analysis could not detect all mutations, especially obscure large insertions/deletions.
Zheng, Qi-Qi +6 more
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Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants [PDF]
, 2007 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).
Seo, Jeong Kee +3 more
core +1 more source
Molecular and clinical information of 60 new NICCD patients in China.
, 2013 Molecular and clinical information of 60 new NICCD patients in China.
Mei Deng (460870) +16 more
core +1 more source
Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening [PDF]
Citrin deficiency is an autosomal recessive disorder caused by a defect of citrin resulting from mutations in the SLC25A13 gene. Intrahepatic cholestasis and various metabolic abnormalities, including hypoglycemia, galactosemia, citrullinemia, and ...
Haberle, Johannes; https://orcid.org/ +12 more
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